Info:
Genanalysen, die im Labor der Novogenia durchgeführt werden:
Alle anderen Analysen (siehe nebenstehende Liste) werden von Novogenia an Partnerlabore vermittelt.
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Aarskog syndrome mehr |
FGD1 |
Sequencing |
3-4 Weeks |
€ 1800,00 |
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Aarskog syndrome mehr |
FGD1 |
MLPA |
3-4 Weeks |
€ 363,00 |
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ABCD SYNDROME mehr |
EDNRB (ENDOTHELIN RECEPTOR, TYPE B) |
Sequencing |
€ 600,00 |
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ABCR (ABCA4) mehr |
ABCR (ABCA4) |
Sequencing |
€ 2640,00 |
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ABCR (ABCA4) mehr |
ABCR (ABCA4) |
ABCR CHIP, 465 positions |
€ 720,00 |
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ABETALIPOPROTEINEMIA mehr |
MTP |
Sequencing |
€ 2004,00 |
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ACATALASEMIA mehr |
CAT (CATALASE) |
Sequencing |
€ 1800,00 |
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Acetylation status N-Acetyl-Transferase 2 mehr |
NAT2 |
Acetylation status |
1 Week |
€ 880,00 |
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ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA mehr |
AAAS (ALADIN, ADRACALIN) |
Sequencing |
€ 1980,00 |
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ACHONDROGENESIS TYPE 1B mehr |
SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) |
Sequencing |
€ 720,00 |
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ACHONDROGENESIS TYPE 2 mehr |
COL2A1 |
Sequencing |
€ 1500,00 |
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Achondroplasia mehr |
FGFR3 |
Detection of Mutations G1138G>A and 1138G>C in the FGFR3 gene |
4 weeks |
€ 211,00 |
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ACHONDROPLASIA mehr |
FGFR3 |
2 Mutations: G380R, G375C |
€ 420,00 |
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ACHROMATOPSIA, TYPE 3 mehr |
CNGB3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3) |
(request price) |
€ 0,00 |
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ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Deletion-Duplication |
€ 720,00 |
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ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Whole Gene |
€ 1800,00 |
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ACROCALLOSAL SYNDROME mehr |
GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
Deletions |
€ 420,00 |
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ACROCALLOSAL SYNDROME mehr |
GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
Whole Gene |
€ 2040,00 |
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ACROCAPITOFEMORAL DYSPLASIA, ACFD mehr |
IHH (INDIAN HEDGEHOG) |
Sequencing |
€ 540,00 |
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ACROKERATOSIS VERRUCIFORMIS mehr |
ATP2A2 (ATP2B, SERCA2) |
Sequencing |
€ 2640,00 |
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ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE mehr |
GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) |
Sequencing |
€ 432,00 |
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ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE mehr |
NPR2 (NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B, ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B, ANPRB) |
Sequencing |
€ 300,00 |
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ACTH DEFICIENCY mehr |
TBX19 (T-BOX 19, T-BOX FACTOR, PITUITARY) |
Sequencing |
€ 1320,00 |
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ACTIN MYOPATHY mehr |
ACTA1 (ACTIN) |
Sequencing |
€ 900,00 |
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ACTN3 (ACTININ, ALPHA-3) mehr |
ACTN3 (ACTININ, ALPHA-3) |
R577X |
€ 144,00 |
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ACUTE MYELOID LEUKEMIA mehr |
ACTIVATING MUTATION (INTERNAL TANDEM DUPLICATION) IN FLT3 (RECEPTOR TYROSINE KINASE) |
VARIOUS FLT3 INHIBITORS |
€ 360,00 |
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ACUTE MYELOID LEUKEMIA mehr |
ACTIVATING MUTATIONS IN EXON 14 IN FLT3 (RECEPTOR TYROSINE KINASE) |
VARIOUS FLT3 INHIBITORS |
€ 240,00 |
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ACUTE LEUKEMIA mehr |
28 fusion products |
Multiplex Diagnostic |
€ 660,00 |
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ACUTE LEUKEMIA mehr |
Activating mutation (Internal tandem duplication) of the FLT3 |
Responsiveness to Various FLT3 Inhibitors Diagnostic & Follow-up |
€ 420,00 |
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ACUTE LEUKEMIA mehr |
Activating mutations in exon 14 of the FLT3 |
Responsiveness to Various FLT3 Inhibitors Diagnostic & Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
AML / EAP / MDS / EVI1 |
t(3;21)(q26;q22) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
AML1 / MGT8 |
t(8;21)(q22;q22) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
BCR / ABL |
t(9;22)(q34;q11) Follow-up Also quantitative determination available |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
CBFb / MYH11 |
inv(16)(p13;q22) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
DEK / CAN |
t(6;9)(p23;q34) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
E2A / HLF |
t(17;19)(q22;p13) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
E2A / PBX1 |
t(1;19)(q23;p13) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
FUSION OF PDGFRB TO TEL/ETV6 |
GLEEVEC / IMATINIB RESPONSIVENESS |
€ 240,00 |
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ACUTE LEUKEMIA mehr |
MLL / AF10 |
t(10;11)(p12;q23) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
MLL / AF17 |
t(11;17)(q23;q21) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
MLL / AF1p |
t(1;11)(p32;q23) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
MLL / AF1q |
t(1;11)(q21;q23) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
MLL / AF4 |
t(4;11)(q21;q23) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
MLL / AF6 |
t(6:11)(q27;q23) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
MLL / AF9 |
t(9;11)(p22;q23) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
MLL / AFX |
t(X;11)(q13;q23) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
MLL / ELL |
t(11;19)(q23;p13.1) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
MLL / ENL |
t(11;19)(q23;p13.3) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
NPM / MLF1 |
t(3;5)(q25.1;q34) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
NPM / RARA |
t(5;17)(q35;q21) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
PLZF / RARA |
t(11;17)(q23;q21) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
PML / RARA |
t(15;17)(q22;q21) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
SET / CAN |
t(9;9)(q34;q34) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
SIL / TAL1 |
TAL1deletion(p34) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
TEL / ABL |
t(9;12)(q34;p13) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
TEL / AML1 |
t(12;21)(p13;q22) Follow-up Also quantitative determination available |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
TEL / MN1 |
t(12;22)(p13;q11) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
TEL / PDGFRB |
t(5;12)(q33;p13) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
TLS / ERG |
t(16;21)(q11;q22) Follow-up |
€ 360,00 |
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ACUTE LEUKEMIA mehr |
WT1 overexpression |
Diagnostic / Follow-up |
€ 360,00 |
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ACUTE LYMPHATIC LEUKEMIA, ALL mehr |
BCR / ABL |
t(9;22) |
€ 480,00 |
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ACUTE LYMPHATIC LEUKEMIA, ALL mehr |
E2A / PBX1 |
t(1;19) |
€ 480,00 |
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ACUTE LYMPHATIC LEUKEMIA, ALL mehr |
MLL |
t( ? ;11) |
€ 480,00 |
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ACUTE MYELOID LEUKEMIA mehr |
Exon 20 Mutations in FLT3 (Including ASP835) |
Responsiveness to Various FLT3 Inhibitors Follow-up |
€ 360,00 |
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ACUTE MYELOID LEUKEMIA mehr |
KIT |
MUTATIONS IN EXONS 8, 11 AND 17 (GLEEVEC/IMATINIB RESPONSIVENESS) |
€ 600,00 |
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ACUTE MYELOID LEUKEMIA mehr |
Muatations in Exons 8, 11 AND 17 in KIT |
Gleevec/Imatinib Responsiveness Diagnostic & Follow-up |
€ 600,00 |
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ACUTE MYELOID LEUKEMIA mehr |
MUTATIONS IN EXONS 8, 11 AND 17 IN KIT |
GLEEVEC / IMATINIB RESPONSIVENESS |
€ 600,00 |
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ACUTE MYELOID LEUKEMIA , AML mehr |
ETO / AML1 |
t(8;21) |
€ 480,00 |
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ACUTE MYELOID LEUKEMIA , AML mehr |
TEL / AML1 |
t(12;21) |
€ 480,00 |
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ACUTE MYELOID LEUKEMIA, AML mehr |
AF10 |
t(10;11) |
€ 480,00 |
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ACUTE MYELOID LEUKEMIA, AML mehr |
EVI1 |
3q26 |
€ 480,00 |
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ACUTE MYELOID LEUKEMIA, AML mehr |
MLL |
t( ? ;11) |
€ 480,00 |
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ACUTE MYELOID LEUKEMIA, AML - M3 mehr |
PML / RARA |
t(15;17) |
€ 480,00 |
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ACUTE MYELOID LEUKEMIA, AML - M3 mehr |
RARA break apart |
Sequencing |
€ 480,00 |
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ACUTE MYELOID LEUKEMIA, AML - M4 mehr |
CBFB |
inv(16) and t(16;16) |
€ 480,00 |
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ACUTE MYOCARDIAL INFARCTION mehr |
LTA (LYMPHOTOXIN ALPHA, TUMOR NECROSIS FACTOR BETA TNFB) |
A252G, C804A |
€ 144,00 |
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ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY mehr |
ACADVL (ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, VLCAD) |
Sequencing |
€ 720,00 |
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ADDISON DISEASE (X-LINKED) mehr |
DAX1 (NROB1) |
Sequencing |
€ 312,00 |
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ADDITIONAL BROTHER mehr |
ADDITIONAL BROTHER |
Sequencing |
€ 180,00 |
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ADDITIONAL CHILD OR ALLEGED FATHER mehr |
ADDITIONAL CHILD OR ALLEGED FATHER |
Sequencing |
€ 180,00 |
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ADDITIONAL CHILD OR ALLEGED FATHER mehr |
ADDITIONAL CHILD OR ALLEGED FATHER |
Sequencing |
€ 240,00 |
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ADDITIONAL CHILD OR ALLEGED MOTHER mehr |
ADDITIONAL CHILD OR ALLEGED MOTHER |
Sequencing |
€ 180,00 |
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ADDITIONAL CHILD OR ALLEGED MOTHER mehr |
ADDITIONAL CHILD OR ALLEGED MOTHER |
Sequencing |
€ 240,00 |
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ADDITIONAL SISTER mehr |
ADDITIONAL SISTER |
Sequencing |
€ 180,00 |
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ADDITIONAL TWIN mehr |
ADDITIONAL TWIN |
Sequencing |
€ 180,00 |
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ADENOCARCINOMA OF LUNG, SOMATIC mehr |
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) |
Sequencing |
€ 1200,00 |
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ADENYLOSUCCINASE DEFICIENCY mehr |
ADSL (ADENYLOSUCCINATE LYASE) |
Sequencing |
€ 1380,00 |
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Adrenal hyperplasia, congenital mehr |
CYP21A2 |
Sequencing; deletions (MLPA) |
4 Weeks |
€ 900,00 |
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Adrenal hyperplasia, congenital mehr |
CYP17A1 |
Sequencing |
4 Weeks |
€ 1020,00 |
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Adrenal hyperplasia, congenital mehr |
HSD3B2 |
Sequencing |
3 Weeks |
€ 660,00 |
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Adrenal hyperplasia, congenital mehr |
CYP11B1 |
Sequencing |
4 Weeks |
€ 780,00 |
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Adrenal hyperplasia, congenital, due to 21-Hydroxylase deficiency mehr |
CYP21A2 |
MLPA (deletions/duplications+8bp-deletion, p.Ile172Asn, Cluster Ex6, p.Gln318X; ca.55% of CYP21A2-mutations) |
3-4 Weeks |
€ 363,00 |
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Adrenal hyperplasia, congenital, due to 21-Hydroxylase deficiency mehr |
CYP21A2 |
MLPA and sequencing |
3-4 Weeks |
€ 1430,00 |
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ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY mehr |
CYP11B1 (CYTOCHROME P450, SUBFAMILY 11B, POLYPEPTIDE 1, STEROID 11-BETA-HYDROXYLASE, P450C11) |
CYP11B1/CYP11B2 fusion |
€ 360,00 |
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ADRENOLEUKODYSTROPH, AUTOSOMAL NEONATAL FORM, NALD mehr |
PEX1 (PEROXISOME BIOGENESIS FACTOR 1) |
Exons 13 and 15 |
€ 720,00 |
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ADRENOLEUKODYSTROPH, AUTOSOMAL NEONATAL FORM, NALD mehr |
PEX2, PEX10, PEX12 and PEX26 |
PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3) |
€ 1560,00 |
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ADRENOLEUKODYSTROPHY, ALD mehr |
ABCD1 |
Sequencing |
€ 960,00 |
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Afibrinogenemia, congenital mehr |
FGA |
Sequencing |
4 Weeks |
€ 660,00 |
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Afibrinogenemia, congenital mehr |
FGB |
Sequencing |
4 Weeks |
€ 935,00 |
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Afibrinogenemia, congenital mehr |
FGG |
Sequencing |
4 Weeks |
€ 935,00 |
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AGAMMAGLOBULINEMIA (X-LINKED), XLA mehr |
BTK (BRUTON TYROSINE KINASE, ATK, BPK) |
Sequencing |
€ 660,00 |
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AGAMMAGLOBULINEMIA, NON-BRUTON TYPE (AUTOSOMAL RECESSIVE) mehr |
IGHM (IMMUNOGLOBULIN MU) |
Sequencing |
€ 960,00 |
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AICARDI-GOUTIERES SYNDROME 1 mehr |
TREX1 (3-PRIME @REPAIR EXONUCLEASE 1, ATRIP) |
Sequencing |
€ 720,00 |
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AICARDI-GOUTIERES SYNDROME 2 mehr |
RNASEH2B (RIBONUCLEASE H2, SUBUNIT B) |
Sequencing |
€ 1440,00 |
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AICARDI-GOUTIERES SYNDROME 3 mehr |
RNASEH2C (RIBONUCLEASE H2, SUBUNIT C) |
Sequencing |
€ 720,00 |
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AICARDI-GOUTIERES SYNDROME 4 mehr |
RNASEH2A (RIBONUCLEASE H2, LARGE SUBUNIT) |
Sequencing |
€ 960,00 |
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Alagille syndrome mehr |
JAG1 |
Complete sequencing of the JAG1 gene |
6 weeks |
€ 1815,00 |
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Alagille syndrome 1 (ALGS1) mehr |
JAG1 |
Sequencing of selected exons |
2-3 Weeks |
€ 1320,00 |
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Alagille syndrome 1 (ALGS1) mehr |
JAG1 |
Sequencing, deletions (MLPA) |
2-3 Weeks |
€ 2200,00 |
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ALAGILLE, AGS mehr |
20p12 deletion |
Sequencing |
€ 480,00 |
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ALBINISM mehr |
ALBINISM PANEL: OCA1, OCA2, OCA3, OCA4, OA1 |
Sequencing |
€ 2400,00 |
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ALBINISM, OCULAR, TYPE 1, OA1 mehr |
OA1 |
Sequencing |
€ 660,00 |
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ALBINISM, RUFOUS OCULOCUTANEOUS, ROCA mehr |
TYRP1 (TYROSINASE-RELATED PROTEIN 1; CATALASE B) |
Sequencing |
€ 840,00 |
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Albright hereditary osteodystrophy mehr |
GNAS |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 715,00 |
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Albright hereditary osteodystrophy mehr |
GNAS |
Methylation test |
2-4 Weeks |
€ 230,00 |
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Albright hereditary osteodystrophy mehr |
GNAS |
Multiplex Ligation-Dependent Probe Amplification; Ex 1, CPG island (Ex.1A), 2,3,4,6,7,11,13 |
2-4 Weeks |
€ 385,00 |
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Albright hereditary osteodystrophy mehr |
GNAS |
Carrier testing |
2 Weeks |
€ 180,00 |
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ALEXANDER DISEASE mehr |
GFAP (GLIAL FIBRILLARY ACIDIC PROTEIN) |
Sequencing |
€ 1320,00 |
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ALLAN-HERNDON-DUDLEY SYNDROME mehr |
SLC16A2 (SOLUTE CARRIER FAMILY 16, MEMBER 2; MONOCARBOXYLATE TRANSPORTER 8; MCT8) |
Sequencing |
€ 1320,00 |
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Alloimmune thrombocytopenia mehr |
ITGB3 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 825,00 |
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Alloimmune thrombocytopenia mehr |
ITGA2B |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
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ALOPECIA UNIVERSALIS CONGENITA mehr |
HR (HAIRLESS, MOUSE, HOMOLOG OF) |
Sequencing |
€ 2160,00 |
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ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS mehr |
POLG (POLYMERASE, DNA, GAMMA) |
Sequencing |
€ 1440,00 |
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ALPHA HAEMOGLOBINOPATHIA mehr |
HBA 1 and HBA 2 (ALPHA GLOBIN) |
Deletion analysis (both HBA1 and HBA2) |
€ 360,00 |
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ALPHA HAEMOGLOBINOPATHIA mehr |
HBA 1 and HBA 2 (ALPHA GLOBIN) |
Whole Gene (both HBA1 and HBA2) |
€ 480,00 |
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Alpha-1-Antitrypsin deficiency mehr |
PI |
Snapshot |
1 Week |
€ 280,00 |
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Alpha-1-Antitrypsin deficiency mehr |
PI |
PI*S and PI*Z allele |
1 Week |
€ 190,00 |
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Alpha-1-Antitrypsin deficiency mehr |
PI |
Sequencing |
3-4 Weeks |
€ 935,00 |
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ALPHA-METHYLACETOACETIC ACIDURIA mehr |
ACAT1 (ACETYL-CoA ACETYLTRANSFERASE 1; ACETOACETYL-CoA THIOLASE, MITOCHONDRIAL) |
Sequencing |
€ 1320,00 |
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Alpha-Thalassemia mehr |
HBA |
MLPA |
3-4 Weeks |
€ 363,00 |
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Alpha-Thalassemia mehr |
HBA |
Sequencing |
3-4 Weeks |
€ 880,00 |
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ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED) mehr |
ATRX (XNP) |
Sequencing |
€ 1800,00 |
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Alpha1-antitrypsin deficiency mehr |
SERPINA1 |
Genotyping of the PI*Z and PI*S alleles of the SERPINA1 gene |
€ 252,00 |
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Alport Syndrome mehr |
COL4A3 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1430,00 |
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Alport Syndrome mehr |
COL4A3 |
Carrier testing |
2 Weeks |
€ 180,00 |
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Alport Syndrome mehr |
COL4A4 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1430,00 |
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Alport Syndrome mehr |
COL4A4 |
Carrier testing |
2 Weeks |
€ 180,00 |
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Alport Syndrome mehr |
COL4A5 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1350,00 |
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Alport Syndrome mehr |
COL4A5 |
Multiplex Ligation-Dependent Probe Amplification; each of the 51 exons with the exception of exon 8,25,40 |
2-4 Weeks |
€ 605,00 |
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Alport Syndrome mehr |
COL4A5 |
Carrier testing |
2 Weeks |
€ 180,00 |
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Alport syndrome - (autosomal dominant inheritance) mehr |
COL4A3 and COL4A4 |
Complete sequencing of COL4A3 and COL4A4 genes |
8 weeks |
€ 1396,00 |
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Alport syndrome - (autosomal recessive inheritance) mehr |
COL4A3 and COL4A4 |
Complete sequencing of COL4A3 and COL4A4 genes |
8 weeks |
€ 1395,00 |
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Alström syndrome mehr |
ALMS1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1430,00 |
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Alström syndrome mehr |
ALMS1 |
Carrier testing |
2 Weeks |
€ 180,00 |
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ALSTROM SYNDROME, ALMS mehr |
ALMS1 |
3 Exons: Exons 10, 16, and part of Exon 8 |
€ 672,00 |
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ALVEOLAR RHABDOMYOSARCOMA mehr |
PAX / FKHR |
t(1;13) |
€ 480,00 |
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ALVEOLAR RHABDOMYOSARCOMA mehr |
PAX / FKHR |
t(2;13) |
€ 480,00 |
|
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ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1 mehr |
APP |
Exons 16 and 17 harbouring the majority of mutations |
€ 480,00 |
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ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1 mehr |
APP |
Deletion-Duplication |
€ 720,00 |
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ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 3, AD3 mehr |
PSEN1 (PRESENILIN 1, PS1) |
Sequencing |
€ 480,00 |
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ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 4, AD4 mehr |
PSEN2 (PRESENILIN 2, PS2) |
Sequencing |
€ 480,00 |
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Alzheimer disease mehr |
APP |
Complete sequencing of the APP gene |
8 weeks |
€ 630,00 |
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Alzheimer disease mehr |
PSEN1 |
Complete sequencing of the PSEN1 gene + control region |
5 weeks |
€ 403,00 |
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Alzheimer disease mehr |
PSEN2 |
Complete sequencing of the PSEN2 gene |
5 weeks |
€ 360,00 |
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Alzheimer disease mehr |
APOE |
DNA Strip technology |
2-4 Weeks |
€ 80,00 |
|
Alzheimer disease mehr |
HFE |
DNA Sequencing; Ex 2 and Ex 4 |
2-4 Weeks |
€ 100,00 |
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ALZHEIMER DISEASE mehr |
ALPHA-2 MACROGLOBULIN (A2M) |
V1000I |
€ 132,00 |
|
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ALZHEIMER DISEASE mehr |
APOE (APOLIPOPROTEIN E) |
E2, E3, E4 Genotype |
€ 120,00 |
|
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ALZHEIMER DISEASE mehr |
BUTYRYLCHOLINESTERASE (BCHE, K-VARIANT) |
A539T |
€ 132,00 |
|
|
ALZHEIMER DISEASE mehr |
CATHEPSIN D (CTSD) |
A224V |
€ 132,00 |
|
|
ALZHEIMER DISEASE mehr |
CYSTATIN C (CYSTATIN 3, CST3) |
A25T |
€ 132,00 |
|
|
ALZHEIMER DISEASE mehr |
LIPOPROTEIN LIPASE GENE (LPL) |
N291S |
€ 132,00 |
|
|
ALZHEIMER DISEASE mehr |
LIPOPROTEIN RECEPTOR-RELATED PROTEIN (LRP) |
C766T |
€ 132,00 |
|
|
ALZHEIMER DISEASE mehr |
MYELOPEROXIDASE (MPO) |
-463G>A |
€ 132,00 |
|
|
AML mehr |
OTT / MAL |
t(1;22)(p13;q13) Diagnostic |
€ 360,00 |
|
|
AMYLOID POLYNEUROPATHY mehr |
TTR (TRANSTHYRETIN) |
V30M on the TTR gene |
€ 313,00 |
|
|
AMYLOID POLYNEUROPATHY mehr |
TTR (TRANSTHYRETIN) |
Exons 2-4 |
€ 480,00 |
|
|
AMYLOIDOSIS, FAMILIAL VISCERAL mehr |
FGA(FIBRINOGEN ALPHA) |
Sequencing |
€ 660,00 |
|
|
AMYOTROPHIC LATERAL SCLEROSIS mehr |
SOD1, TARDBP, ANG, ALS6 |
Panel of 4 Genes |
€ 1200,00 |
|
|
Amyotrophic lateral sclerosis ALS1 mehr |
SOD1 |
Sequencing |
4 Weeks |
€ 550,00 |
|
Amyotrophic lateral sclerosis ALS4 mehr |
SETX |
Sequencing |
6 Weeks |
€ 1200,00 |
|
AMYOTROPHIC LATERAL SCLEROSIS TYPE 10, ALS10 mehr |
TARDBP (TAR DNA-BINDING PROTEIN) |
Sequencing |
€ 648,00 |
|
|
AMYOTROPHIC LATERAL SCLEROSIS TYPE 8, ALS8 mehr |
VAPB (VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B; VAMP-ASSOCIATED PROTEIN) |
Sequencing |
€ 720,00 |
|
|
AMYOTROPHIC LATERAL SCLEROSIS, TYPE 1, ALS1 mehr |
ANG (ANGIOGENIN, RNASE5) |
Sequencing |
€ 540,00 |
|
|
AMYOTROPHIC LATERAL SCLEROSIS, TYPE 1, ALS1 mehr |
DCTN1 (DYNACTIN 1) |
Sequencing |
€ 2640,00 |
|
|
AMYOTROPHY, HEREDITARY NEURALGIC mehr |
SEPT9 (SEPTIN 9) |
Sequencing |
€ 1380,00 |
|
|
Andermann syndrome mehr |
SLC12A6 |
Sequencing of exons 11, 15, 18 and 22 of the SLC12A6 gene |
4 weeks |
€ 495,00 |
|
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS mehr |
KCNJ2 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2, KIR2.1) |
Sequencing |
€ 960,00 |
|
|
ANDROGEN INSENSITIVITY SYNDROME, AIS mehr |
AR (ANDROGEN RECEPTOR) |
Whole Gene |
€ 594,00 |
|
|
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE 1 mehr |
CDAN1 (CODANIN 1, DISCS LOST, DROSOPHILA, HOMOLOG OF) |
Sequencing |
€ 2400,00 |
|
|
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA mehr |
ABCB7 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7, ABC TRANSPORTER 7) |
Sequencing |
€ 1440,00 |
|
|
ANEUPLOIDY ASSAY mehr |
Chromosome 13, 18, 21, X / Y |
Sequencing |
€ 600,00 |
|
|
Angelman syndrome mehr |
SNRPN |
Methylation analysis of the SNRPN-gene locus by MLPA |
1-2 Weeks |
€ 572,00 |
|
Angelman syndrome mehr |
UBE3A |
Complete sequencing of the UBE3A gene |
3 weeks |
€ 892,00 |
|
Angelman syndrome(AS) mehr |
15q11-q13UBE3A |
Methylation analysis |
2 Weeks |
€ 230,00 |
|
Angelman syndrome(AS) mehr |
15q11-q13UBE3A |
Deletions (MLPA*) sequencing |
3 Weeks |
€ 990,00 |
|
ANGELMAN SYNDROME, AS mehr |
UBE3A |
IC Deletion |
€ 480,00 |
|
|
ANGELMAN SYNDROME, AS mehr |
UBE3A |
Whole Gene |
€ 1188,00 |
|
|
ANGELMAN SYNDROME, ATYPICAL mehr |
CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9) |
Sequencing |
€ 1440,00 |
|
|
ANGELMAN, AS mehr |
15q11 - q13 deletion |
Sequencing |
€ 480,00 |
|
|
ANGIOEDEMA mehr |
C1NH (C1 ESTERASE INHIBITOR, SERPING 1) |
Sequencing |
€ 1200,00 |
|
|
ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HANAC mehr |
COL4A1 |
Deletion-Duplication |
€ 960,00 |
|
|
Angiotension converting enzyme mehr |
ACE |
del/ins Polymorphism |
1-2 Weeks |
€ 160,00 |
|
ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3 mehr |
EDARADD (EDAR-ASSOCIATED DEATH DOMAIN) |
Sequencing |
€ 900,00 |
|
|
ANIRIDIA, TYPE II mehr |
PAX6 |
Sequencing |
4 Weeks |
€ 936,00 |
|
ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Deletion-Duplication |
€ 720,00 |
|
|
ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Whole Gene |
€ 1800,00 |
|
|
ANOPHTHALMIA, ANOP3 mehr |
SOX2 (SRY-BOX 2) |
Sequencing |
€ 720,00 |
|
|
Antenatal Bartter syndrome type 1 mehr |
SLC12A1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Antenatal Bartter syndrome type 1 mehr |
SLC12A1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Antenatal Bartter syndrome type 2 mehr |
KCNJ1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
Antenatal Bartter syndrome type 2 mehr |
KCNJ1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS mehr |
FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) |
Deletion-Duplication |
€ 600,00 |
|
|
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS mehr |
FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) |
Whole Gene Sequencing |
€ 660,00 |
|
|
ANTITHROMBIN 3 DEFICIENCY mehr |
AT3 (SERPINC1) |
Sequencing |
€ 552,00 |
|
|
ANTITRYPSINE mehr |
ANTITRYPSINE |
See PI ( |
€ 0,00 |
|
|
ANTITRYPSINE DEFICIENCY, AAT mehr |
PI (ANTITRYPSINE, PROTEASE INHIBITOR) |
Alleles M, S and Z |
€ 252,00 |
|
|
ANY MUTATION IN ANY GENE THAT HAS ALREADY BEEN DIAGNOSED BY ANOTHER LABORATORY mehr |
ANY MUTATION IN ANY GENE THAT HAS ALREADY BEEN DIAGNOSED BY ANOTHER LABORATORY |
Sequencing |
€ 420,00 |
|
|
ANY MUTATION THAT HAS ALREADY BEEN DIAGNOSED IN A FAMILY MEMBER BY A CERTAIN NETWORK LABORATORY mehr |
ANY MUTATION THAT HAS ALREADY BEEN DIAGNOSED IN A FAMILY MEMBER BY A CERTAIN NETWORK LABORATORY |
Sequencing |
€ 300,00 |
|
|
ANY TUMOR mehr |
LOSS OF HETEROZYGOSITY |
DELETION |
€ 234,00 |
|
|
Aortic Aneurism Related Conditions mehr |
Sequencing of 3 genes: FBN1, FBN2, TGFBR2 |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 2900,00 |
|
AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 4 mehr |
MYH11 (MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE, SMOOTH MUSCLE MYOSIN HEAVY CHAIN) |
Deletions-Duplications |
€ 600,00 |
|
|
AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 4 mehr |
MYH11 (MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE, SMOOTH MUSCLE MYOSIN HEAVY CHAIN) |
Whole Gene |
€ 1560,00 |
|
|
AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 6 mehr |
ACTA2 (ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA) |
Sequencing |
€ 720,00 |
|
|
Apert syndrome mehr |
FGFR2 |
Detection of mutations S252W and P253R on the FGFR2 gene |
8 weeks |
€ 420,00 |
|
APLASTIC ANEMIA mehr |
TERC (TELOMERASE RNA COMPONENT) |
Sequencing |
€ 480,00 |
|
|
Apolipoprotein A1 mehr |
APOA1 |
Sequencing |
1-2 Weeks |
€ 550,00 |
|
Apolipoprotein E deficiency mehr |
APOE |
Snapshot |
1 Week |
€ 130,00 |
|
Apparent mineralocorticoid excess mehr |
HSD11B2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
APRT DEFICIENCY mehr |
APRT (ADENINE PHOSPHORIBOSYLTRANSFERASE) |
Sequencing |
€ 480,00 |
|
|
ARGININOSUCCINIC ACIDURIA mehr |
ASL (ARGININOSUCCINATE LYASE, ARGININOSUCCINASE) |
Sequencing |
€ 1680,00 |
|
|
AROMATASE DEFICIENCY mehr |
CYP19A1 (AROMATASE) |
Sequence analysis of exons 9 and 10, including the following common mutations: Arg365Gln, Val370Met, Arg375Cys, Arg435Cys, Cys437Tyr, Arg457Term |
€ 192,00 |
|
|
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY mehr |
DDC (DOPA DECARBOXYLASE; AROMATIC L-AMINO ACID DECARBOXYLASE; AADC) |
Sequencing |
€ 1332,00 |
|
|
Arrhythmogenic Right Ventricular Cardiomyopathy mehr |
Sequencing of 8 genes: TGFB3, RYR2, TMEM43, DSP, PKP2, DSG2, DSC2, JUP |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 2900,00 |
|
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC) mehr |
Ryanodine receptor 2 (RYR2) for ARVC2, Transmembrane protein 43 (TMEM43) for ARVC5, Desmoplakin (DSP) for ARVC8, Plakophilin-2 (PKP2) for ARVC9, Desmoglein-2 (DSG2) for ARVC10, Desmocollin-2 (DSC2) for ARVC11, Junction plakoglobin (JUP) for ARVC12 |
7 genes |
€ 3360,00 |
|
|
Arrhythmogenic right ventricular dysplasia mehr |
DSG2 |
Complete sequencing of DSG2 gene |
10 weeks |
€ 1020,00 |
|
Arrhythmogenic right ventricular dysplasia mehr |
RYR2 |
Mutations screening of RYR2 gene (30 exons) |
10 weeks |
€ 960,00 |
|
Arrhythmogenic right ventricular dysplasia mehr |
PKP2 |
Complete sequencing of PKP2 gene |
9 weeks |
€ 501,00 |
|
Arrhythmogenic right ventricular dysplasia mehr |
DSP |
Complete sequencing of DSP gene |
10 weeks |
€ 503,00 |
|
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL mehr |
PKP2, DSP, DSG2, DSC2 PANEL |
See also PKP2, DSP, DSG2, DSC2 PANEL |
€ 1920,00 |
|
|
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 11, ARVD11 mehr |
DSC2 (DESMOCOLLIN 2, DESMOSOMAL GLYCOPROTEIN 2/3) |
See also PKP2, DSP, DSG2, DSC2 PANEL |
€ 1080,00 |
|
|
ARTERIAL TORTUOSITY SYNDROME, ATS mehr |
SLC2A10 (SOLUTE CARRIER FAMILY 2 - FACILITATED GLUCOSE TRANSPORTER, MEMBER 10, GLUCOSE TRANSPORTER 10, GLUT10) |
Sequencing |
€ 960,00 |
|
|
Arteriosclerosis mehr |
APOB |
Restriction digest |
2-4 Weeks |
€ 180,00 |
|
Arteriosclerosis mehr |
APOE |
DNA Strip technology |
2-4 Weeks |
€ 80,00 |
|
Arteriosclerosis mehr |
HABP2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 715,00 |
|
Arteriosclerosis mehr |
HABP2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Arteriosclerosis mehr |
LDLR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 980,00 |
|
Arteriosclerosis mehr |
LDLR |
Multiplex Ligation-Dependent Probe Amplification; each exon of theLDLR gene |
2-4 Weeks |
€ 385,00 |
|
Arteriosclerosis mehr |
LDLR |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Arteriosclerosis mehr |
MTHFR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 605,00 |
|
Arteriosclerosis mehr |
SLC3A1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 550,00 |
|
Arteriosclerosis mehr |
SLC3A1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Arthrogryposis, distal, type 1 (DA1) mehr |
TPM2 |
Sequencing |
2-3 Weeks |
€ 1020,00 |
|
ARTHROGRYPOSIS, DISTAL, TYPE 2A mehr |
MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC) |
Exons 6, 9, 10, 12, 15, 16, 18, 21, 22, 34 |
€ 1200,00 |
|
|
ARTHROGRYPOSIS, DISTAL, TYPE 2A mehr |
MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC) |
Whole Gene |
€ 3120,00 |
|
|
ARTHROGRYPOSIS, DISTAL, TYPE 2B mehr |
MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC) |
Exons 6, 9, 10, 12, 15, 16, 18, 21, 22, 34 |
€ 1200,00 |
|
|
ARTHROGRYPOSIS, DISTAL, TYPE 2B mehr |
MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC) |
Whole Gene |
€ 3120,00 |
|
|
ARTHROGRYPOSIS, DISTAL, TYPE 2B mehr |
TNNI2 (TROPONIN 1, FAST-TWITCH SKELETAL MUSCLE ISOFORM) |
Sequencing |
€ 600,00 |
|
|
ARTHROGRYPOSIS, DISTAL, TYPE 2B mehr |
TNNT3 (TROPONIN T3, FAST SKELETAL) |
Sequencing |
€ 1500,00 |
|
|
ARX - DLG3 - FACL4 - FTSJ1 - JARID1C - PQBP1 - TM4SF2 - ZNF41 mehr |
MRX - PANEL |
8 Genes |
€ 3480,00 |
|
|
ASKHENAZI JEWISH DISEASES (Tay-Sachs Disease, Bloom Syndrome, Canavan Disease, Niemann-Pick A, Famil mehr |
HEX A, BLM, ASPA, SMPD1, IKBKAP, DYT1, MCOLN1, FANCC, F11, G6PC, BCKHDB, GJB2, MEFV, GDE, GBA, SERPINA1, NEB, DLD, PCDH15, ABCC8, LDLR and CFTR |
ASKHENAZI JEWISH DISEASES CHIP, 77 Mutations in 22 Genes |
€ 720,00 |
|
|
ASPERGER SYNDROME (X-LINKED) mehr |
NLGN3 (NEUROLIGIN 3) |
Sequencing |
€ 1056,00 |
|
|
ASPERGER SYNDROME (X-LINKED) mehr |
NLGN3 AND NLGN4 |
Sequencing |
€ 1920,00 |
|
|
ASPERGER SYNDROME (X-LINKED) mehr |
NLGN4 (NEUROLIGIN 4) |
Sequencing |
€ 1140,00 |
|
|
ASTHMA mehr |
FLG (FILAGGRIN, PROFILAGGRIN) |
2 Common Mutations: c.2282delCAGT and c.1501C>T (p.Arg501X ) |
€ 300,00 |
|
|
ASTHMA mehr |
FLG (FILAGGRIN, PROFILAGGRIN) |
7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X |
€ 960,00 |
|
|
Ataxia with Oculomotor Apraxia 1 mehr |
APTX |
Sequencing |
4 Weeks |
€ 780,00 |
|
Ataxia with Oculomotor Apraxia 2 mehr |
SETX |
Sequencing |
6 Weeks |
€ 1540,00 |
|
Ataxia with Vitamin-E deficiency(VED) mehr |
TTPA |
Sequencing |
3 Weeks |
€ 550,00 |
|
ATAXIA, CATARACT AND DIABETES MELLITUS mehr |
MTTS2 (TRANSFER RNA, MITOCHONDRIAL, SERINE, 2) |
Sequencing |
€ 1020,00 |
|
|
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS mehr |
MTTV (TRANSFER RNA, MITOCHONDRIAL, VALINE) |
Sequencing |
€ 1020,00 |
|
|
ATAXIA-TELANGIECTASIA, AT mehr |
ATM |
Sequencing |
€ 1440,00 |
|
|
ATELOSTEOGENESIS TYPE 2 mehr |
SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) |
Sequencing |
€ 720,00 |
|
|
ATELOSTEOGENESIS, TYPE 1 mehr |
FLNB (FILAMIN B) |
Sequencing |
€ 2280,00 |
|
|
ATELOSTEOGENESIS, TYPE 3 mehr |
FLNB (FILAMIN B) |
Sequencing |
€ 2280,00 |
|
|
Atherosclerosis, predisposition to mehr |
ß-Fibrinogen-gene;FGB-gene |
1-2 Weeks |
€ 80,00 |
|
|
ATOPIC DERMATITIS mehr |
FLG (FILAGGRIN, PROFILAGGRIN) |
2 Common Mutations: c.2282delCAGT and c.1501C>T (p.Arg501X ) |
€ 300,00 |
|
|
ATOPIC DERMATITIS mehr |
FLG (FILAGGRIN, PROFILAGGRIN) |
7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X |
€ 960,00 |
|
|
Atrial Fibrillation mehr |
Sequencing of 5 genes: GJAS, KCNQ1, KCNE2, NPPA, KCNA5 |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 2900,00 |
|
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS mehr |
NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX) |
Sequencing |
€ 540,00 |
|
|
ATRIAL SEPTAL DEFECT, TYPE 2 mehr |
GATA4 (GATA-BINDING PROTEIN 4) |
Sequencing |
€ 1500,00 |
|
|
ATRICHIA WITH PAPULAR LESIONS mehr |
HR (HAIRLESS, MOUSE, HOMOLOG OF) |
Sequencing |
€ 2160,00 |
|
|
ATRIOVENTRICULAR BLOCK, IDIOPATHIC SECOND-DEGREE mehr |
NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX) |
Sequencing |
€ 540,00 |
|
|
ATROPHIN1 mehr |
ATROPHIN1 |
See DRPLA ( |
30 weeks |
€ 0,00 |
|
ATXN1 (ATAXIN 1) mehr |
ATXN1 (ATAXIN 1) |
See SCA1, SCA2, SCA3, SCA6 (request price) |
€ 0,00 |
|
|
ATXN10 (ATAXIN 10) mehr |
ATXN10 (ATAXIN 10) |
Repeat |
€ 180,00 |
|
|
ATXN2 (ATAXIN 2) mehr |
ATXN2 (ATAXIN 2) |
See SCA1, SCA2, SCA3, SCA6 (request price) |
€ 0,00 |
|
|
ATXN3 (ATAXIN 3) mehr |
ATXN3 (ATAXIN 3) |
See SCA1, SCA2, SCA3, SCA6 (request price) |
€ 0,00 |
|
|
ATXN8OS (ATAXIN 8 OPPOSITE STRAND, SCA8) mehr |
ATXN8OS (ATAXIN 8 OPPOSITE STRAND, SCA8) |
Repeat |
€ 180,00 |
|
|
ATYPICAL MYCOBACTERIOSIS, FAMILIAL mehr |
IFNGR1 (INTERFERON, GAMMA, RECEPTOR 1, ANTIVIRAL PROTEIN, TYPE 2) |
Sequencing |
€ 960,00 |
|
|
ATYPICAL MYCOBACTERIOSIS, FAMILIAL mehr |
IFNGR1 and IFNGR2 |
Sequencing |
€ 960,00 |
|
|
ATYPICAL MYCOBACTERIOSIS, FAMILIAL mehr |
IFNGR2 (INTERFERON, GAMMA, RECEPTOR 2) |
Sequencing |
€ 960,00 |
|
|
AUTISM (X-LINKED) mehr |
NLGN3 (NEUROLIGIN 3) |
Sequencing |
€ 1056,00 |
|
|
AUTISM (X-LINKED) mehr |
NLGN3 AND NLGN4 |
Sequencing |
€ 1920,00 |
|
|
AUTISM (X-LINKED) mehr |
NLGN4 (NEUROLIGIN 4) |
Sequencing |
€ 1140,00 |
|
|
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B mehr |
CASP8 (CASPASE 8, FLICE, MCH5) |
Sequencing |
€ 1548,00 |
|
|
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B mehr |
TNFRSF6 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6, APT1, FAS) |
Exons 7-9 (majority of mutations) |
€ 600,00 |
|
|
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B mehr |
TNFRSF6 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6, APT1, FAS) |
Exons 1-6 |
€ 840,00 |
|
|
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B mehr |
TNFRSF6 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6, APT1, FAS) |
Whole Gene |
€ 1380,00 |
|
|
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 2, ALPS2 mehr |
CASP10 (CASPASE 10, MCH4, CASP10B, FLICE2) |
Sequencing |
€ 1068,00 |
|
|
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1 mehr |
AIRE (AUTOIMMUNE REGULATOR) |
Whole Gene |
€ 960,00 |
|
|
Autosomal dominant hypophosphatemic rickets mehr |
FGF23 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Autosomal dominant hypophosphatemic rickets mehr |
FGF23 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 180,00 |
|
Autosomal dominant hypophosphatemic rickets mehr |
FGF23 |
Multiplex Ligation-Dependent Probe Amplification : each exon of FGF23 gene |
2-4 Weeks |
€ 385,00 |
|
Autosomal dominant polycystic kidney disease mehr |
PKD2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 825,00 |
|
Autosomal dominant polycystic kidney disease mehr |
PKD2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
AUTOSOMAL RECESSIVE AND SPORADIC RETINITIS PIGMENTOSA mehr |
USH2A (Usherin), EYS (Eyes Shut Homolog), ABCA4 (ATP-binding cassette, subfamily A, member 4), CRB1 (Crumbs homologue 1), PDE6A (Phosphodiesterase 6A, cGMP-specific, rod alpha subunit), PDE6B (Phosphodiesterase 6B, cGMP-specific, rod beta subunit), RPE65 |
7 genes |
€ 3360,00 |
|
|
Autosomal Recessive Congenital Ichthyosis mehr |
TGM1 |
Complete sequencing of TGM1 gene |
12 weeks |
€ 1170,00 |
|
Autosomal recessive polycystic kidney and hepatic disease 1 mehr |
PKHD1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1870,00 |
|
Autosomal recessive polycystic kidney and hepatic disease 1 mehr |
PKHD1 |
Multiplex Ligation-Dependent Probe Amplification; each of the 68 exons with the exception of exon 17 |
2-4 Weeks |
€ 605,00 |
|
Autosomal recessive polycystic kidney and hepatic disease 1 mehr |
PKHD1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Azoospermia mehr |
AZF-factor |
Y chromosome microdeletions |
1 Week |
€ 230,00 |
|
AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS mehr |
SYCP3 (SYNAPTONEMAL COMPLEX PROTEIN 3) |
Sequencing |
€ 840,00 |
|
|
AZOSPERMIA-OLIGOSPERMIA mehr |
AZFa, AZFb and AZFc (including DAZ) |
Deletions |
€ 180,00 |
|
|
|
|
|
|
|
B-CELL CHRONIC LYMPHATIC LEUKEMIA, B-CLL mehr |
11q, 13q14.3, 17p13.3 |
Sequencing |
€ 600,00 |
|
|
B-CELL CHRONIC LYMPHATIC LEUKEMIA, B-CLL mehr |
12 |
Sequencing |
€ 480,00 |
|
|
BALLER-GEROLD SYNDROME mehr |
RECQL4 (RECQ PROTEIN-LIKE 4, DNA HELICASE, RECQ-LIKE, TYPE 4 ) |
Sequencing |
€ 1920,00 |
|
|
BAMFORTH-LAZARUS SYNDROME mehr |
FOXE1 (FORKHEAD BOX E1, THYROID TRANSCRIPTION FACTOR 2, TTF2, TITF2) |
Sequencing |
€ 720,00 |
|
|
BANNAYAN-MYHRE-RILEY-RUVALCAVA-SMITH-ZONANA SYNDROME mehr |
PTEN |
Whole Gene and Deletions-Duplications |
€ 2040,00 |
|
|
BARAKAT SYNDROME mehr |
GATA3 (GATA-BINDING PROTEIN 3) |
Sequencing |
€ 540,00 |
|
|
BARDET-BIEDL SYNDROME mehr |
BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, DBBS7, BBS8, BBS9, BBS10, BBS12, PHF6, GNAS1, ALMS1 |
BARDET-BIEDL CHIP 308 positions |
€ 720,00 |
|
|
BARDET-BIEDL SYNDROME TYPE 1, BBS1 mehr |
BBS1 |
Sequencing |
€ 1080,00 |
|
|
BARDET-BIEDL SYNDROME TYPE 10, BBS10 mehr |
BBS10 |
Sequencing |
€ 960,00 |
|
|
BARDET-BIEDL SYNDROME TYPE 12, BBS12 mehr |
BBS12 |
Sequencing |
€ 720,00 |
|
|
BARDET-BIEDL SYNDROME TYPE 2, BBS2 mehr |
BBS2 |
Sequencing |
€ 1080,00 |
|
|
BARDET-BIEDL SYNDROME TYPE 6, BBS6 mehr |
BBS6 (MKKS, MKS) |
Sequencing |
€ 840,00 |
|
|
BARTH SYNDROME mehr |
TAZ (TAFAZZIN) |
Sequencing |
€ 660,00 |
|
|
Bartter syndrome mehr |
BSND |
Complete sequencing of BSND gene |
8 weeks |
€ 270,00 |
|
BARTTER SYNDROME, TYPE 3 mehr |
CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) |
Sequencing |
€ 1500,00 |
|
|
BARTTER SYNDROME, TYPE 4 mehr |
CLCNKA (CLCK1, CHLORIDE CHANNEL, KIDNEY, A) |
Sequencing |
€ 1500,00 |
|
|
BARTTER SYNDROME, TYPE 4 mehr |
CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) |
Sequencing |
€ 1500,00 |
|
|
BASAL GANGLIA DISEASE mehr |
FTL |
Sequencing(4 exons und promotor) |
3 Weeks |
€ 550,00 |
|
BASAL GANGLIA DISEASE, ADULT-ONSET mehr |
FTL (FERRITIN LIGHT CHAIN) |
Sequencing |
€ 360,00 |
|
|
Beare-Stevenson syndrome mehr |
FGFR2 |
Sequencing |
3 Weeks |
€ 600,00 |
|
BECKER MUSCULAR DYSTROPHY, BMD mehr |
DMD (DYSTROPHIN) |
Deletions-Duplications (MLPA) |
€ 600,00 |
|
|
BECKER MUSCULAR DYSTROPHY, BMD mehr |
DMD (DYSTROPHIN) |
Whole Gene |
€ 2220,00 |
|
|
Beckwith-Wiedemann syndrome mehr |
CDKN1C |
Complete sequencing of CDKN1C gene |
6 weeks |
€ 539,00 |
|
Beckwith-Wiedemann syndrome mehr |
- |
Analysis of uniparental disomy for chromosome 11 |
8 weeks |
€ 413,60 |
|
BECKWITH-WIEDEMANN SYNDROME, BWS mehr |
KCNQ1OT1 and H19 |
KCNQ1OT1 and H19 Imprinting |
€ 480,00 |
|
|
BECKWITH-WIEDEMANN, BWS mehr |
11p15.1 - p15.2 duplication |
Sequencing |
€ 480,00 |
|
|
Bernard- Soulier syndrome mehr |
GP1BA |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 230,00 |
|
Bernard- Soulier syndrome mehr |
GP1BA |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Bernard- Soulier syndrome mehr |
GP1BB |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 230,00 |
|
Bernard- Soulier syndrome mehr |
GP1BB |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Bernard- Soulier syndrome mehr |
GP9 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 230,00 |
|
Bernard- Soulier syndrome mehr |
GP9 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
BERNARD-SOULIER SYNDROME mehr |
GP1BB,GP1BA,GP9 |
Sequencing |
4 Weeks |
€ 1430,00 |
|
Beta-Thalassemia mehr |
HBB |
MLPA |
3-4 Weeks |
€ 363,00 |
|
Beta-Thalassemia mehr |
HBB |
HbE |
€ 200,00 |
|
|
Beta-Thalassemia mehr |
HBB |
Hb Lepore (hybrid gene) |
3-4 Weeks |
€ 130,00 |
|
Beta-Thalassemia (sickle cell anaemia) mehr |
HBB |
Sequencing |
3 Weeks |
€ 338,00 |
|
BETHLEM MYOPATHY mehr |
COL6A1, COL6A2, COL6A3 |
3 Genes |
€ 3240,00 |
|
|
BIOTINIDASE DEFICIENCY mehr |
BTD (BIOTINIDASE) |
8 Mutations: D444H, A171T, F403V, G98, 7-BP DEL/3-BP INS, Q456H, R157H, R538C, D252G, Detecting 60% of all BTD Mutations |
€ 300,00 |
|
|
BIRT-HOGG-DUBE SYNDROME, BHD mehr |
FLCN (FOLLICULIN, FLCL) |
Sequencing |
€ 1740,00 |
|
|
BLADDER CANCER, TRANSITIONAL CELL mehr |
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) |
Sequencing |
€ 540,00 |
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, BPES mehr |
FOXL2 |
Sequencing |
€ 600,00 |
|
|
BLOCH-SULZBERGER DISEASE mehr |
IKBKG (NEMO) |
1 Mutation: Exon 4-10 Deletion |
€ 540,00 |
|
|
BLOCH-SULZBERGER DISEASE mehr |
IKBKG (NEMO) |
Whole Gene |
€ 1080,00 |
|
|
BLOOM SYNDROME mehr |
BLOOM SYNDROME |
Sister Chromatide Exchange Study |
€ 720,00 |
|
|
BLOOM SYNDROME mehr |
RECQL3 (RECQ2) |
See also Molecular Screening Tests Table |
€ 180,00 |
|
|
Bone Marrow Transplant: Engraftment Control mehr |
STR Markers |
Chimerism Follow-up |
€ 600,00 |
|
|
BOOMERANG DYSPLASIA mehr |
FLNB (FILAMIN B) |
Sequencing |
€ 2280,00 |
|
|
BORDERLINE SMEI (SMEIB) mehr |
SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) |
Whole Gene and Deletions-Duplications |
€ 2184,00 |
|
|
BRACHYDACTYLY TYPE A1, BDA1 mehr |
IHH (INDIAN HEDGEHOG) |
Sequencing |
€ 540,00 |
|
|
BRACHYDACTYLY TYPE A2, BDA2 mehr |
BMPR1B (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB, ACTIVIN RECEPTOR-LIKE KINASE 6) |
Sequencing |
€ 540,00 |
|
|
BRACHYDACTYLY TYPE D, BDD mehr |
HOXD 13 (HOMEOBOX D13) |
Sequencing |
€ 612,00 |
|
|
BRACHYDACTYLY TYPE E, BDE mehr |
HOXD 13 (HOMEOBOX D13) |
Sequencing |
€ 612,00 |
|
|
BRACHYDACTYLY, TYPE B, BDB mehr |
ROR2 (NTRKR2) |
Exons 8 and 9 |
€ 636,00 |
|
|
BRACHYDACTYLY, TYPE C mehr |
GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) |
Sequencing |
€ 432,00 |
|
|
BRACHYOLMIA, TYPE 3 mehr |
TRPV4 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; VANILLOID RECEPTOR-RELATED OSMOTICALLY ACTIVATED CHANNEL; OSM9-LIKE TRANSIENT RECEPTOR POTENTIAL CHANNEL 4; TRANSIENT RECEPTOR POTENTIAL CHANNEL 12) |
Sequencing |
€ 1920,00 |
|
|
Brain Small Vessel Disease with Hemorrhage mehr |
COL4A1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1430,00 |
|
Brain Small Vessel Disease with Hemorrhage mehr |
COL4A1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE mehr |
COL4A1 |
Deletion-Duplication |
€ 960,00 |
|
|
BRANCHIOOTIC SYNDROME, TYPE 3 mehr |
SIX1 |
Sequencing |
€ 600,00 |
|
|
Branchiootorenal syndrome (BOR) mehr |
EYA1 |
Sequencing, MLPA |
5 Weeks |
€ 1430,00 |
|
Branchiootorenal syndrome (BOR) mehr |
SIX1 |
Sequencing |
4 Weeks |
€ 440,00 |
|
Branchiootorenal syndrome (BOR) 2 mehr |
SIX5 |
Sequencing |
4 Weeks |
€ 605,00 |
|
Branchiootorenal syndrome 1; bor mehr |
EYA1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 720,00 |
|
BREAST AND OVARIAN CANCER mehr |
BRCA1 and BRCA2 |
MLPA |
€ 480,00 |
|
|
BREAST AND OVARIAN CANCER mehr |
BRCA1 and BRCA2 |
2 Whole Genes sequencing |
5 weeks |
€ 1567,00 |
|
BREAST AND OVARIAN CANCER mehr |
BRCA2 |
3 Common Askhenazi Jewish Mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2) |
€ 480,00 |
|
|
BREAST CANCER mehr |
HER2 / NEU |
OVEREXPRESSION (HERCEPTIN RESPONSIVENESS) |
€ 456,00 |
|
|
BREAST CANCER mehr |
HER2 / NEU OVEREXPRESSION |
HERCEPTIN RESPONSIVENESS |
€ 456,00 |
|
|
BREAST CANCER, FAMILIAL mehr |
CHEK2 (CHECKPOINT KINASE 2) |
*1100delC |
€ 360,00 |
|
|
BREAST CANCER, FAMILIAL mehr |
CHEK2 (CHECKPOINT KINASE 2) |
Whole Gene |
€ 960,00 |
|
|
BREAST CANCER, FAMILIAL mehr |
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) |
Sequencing |
€ 540,00 |
|
|
BREAST CANCER, FAMILIAL mehr |
P53 (TP53) |
Exons 5-8 |
€ 300,00 |
|
|
BREAST CANCER, FAMILIAL mehr |
P53 (TP53) |
Whole Gene |
€ 420,00 |
|
|
Breast/Ovarian Cancer, hereditary- mehr |
BRCA1-gene |
Sequencing |
3-4 Weeks |
€ 840,00 |
|
Breast/Ovarian Cancer, hereditary- mehr |
BRCA1-gene |
MLPA-analysis |
3-4 Weeks |
€ 363,00 |
|
Breast/Ovarian Cancer, hereditary- mehr |
BRCA1-gene |
Sequencing and MLPA analysis- |
3-4 Weeks |
€ 1200,00 |
|
Breast/Ovarian Cancer, hereditary- mehr |
BRCA2-gene |
Sequencing |
5 Weeks |
€ 934,00 |
|
Breast/Ovarian Cancer, hereditary- mehr |
BRCA2-gene |
MLPA-analysis |
3-4 Weeks |
€ 363,00 |
|
Breast/Ovarian Cancer, hereditary- mehr |
BRCA2-gene |
Sequencing and MLPA analysis- |
3-4 Weeks |
€ 1200,00 |
|
Bruck syndrome type 2 mehr |
PLOD2 |
Sequencing |
4 Weeks |
€ 1870,00 |
|
Brugada Syndrome mehr |
Sequencing of 7 genes: SCN5A, GPD1L, CACNA1C. CACNB2, SCN1B, KCNE3, SCN3B |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 2900,00 |
|
BRUGADA SYNDROME mehr |
SCN5A |
See also LONG QT PANEL 1, 2 and 3 |
€ 3360,00 |
|
|
BUDD-CHIARI SYNDROME mehr |
JAK2 (JANUS KINASE 2) |
Exon 12, including V617F Mutation |
€ 300,00 |
|
|
BURKIT LYMPHOMA, BL mehr |
IGH / MYC |
t(8;14) |
€ 480,00 |
|
|
BUSCHKE-OLLENDORFF SYNDROME mehr |
LEMD3 (LEM DOMAIN-CONTAINING 3, MAN1) |
Sequencing |
€ 960,00 |
|
|
|
|
|
|
|
CACNA1A (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM CHANNEL, L TYPE, AL mehr |
CACNA1A (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, CACNL1A4) |
See SCA1, SCA2, SCA3, SCA6 |
€ 600,00 |
|
|
CADASIL mehr |
NOTCH3 |
Mutation scanning (DGGE) |
5 Weeks |
€ 880,00 |
|
CADASIL mehr |
Notch3-gene |
Analysis of exon 3-6 and 11 |
1-2 Weeks |
€ 550,00 |
|
CADASIL mehr |
Notch3-gene |
Analysis of exon 1-2, 7-10 and 12-33 |
1-2 Weeks |
€ 2750,00 |
|
CAMPOMELIC DYSPLASIA mehr |
SOX9 |
Sequencing |
4 Weeks |
€ 385,00 |
|
CAMURATI-ENGELMANN DISEASE mehr |
TGFB1 (TGFB, TRANSFORMING GROWTH FACTOR, BETA-1) |
Exon 24 |
€ 480,00 |
|
|
CAMURATI-ENGELMANN DISEASE mehr |
TGFB1 (TGFB, TRANSFORMING GROWTH FACTOR, BETA-1) |
Whole Gene |
€ 960,00 |
|
|
CANAVAN DISEASE mehr |
ASPA (ASPARTOACYLASE) |
See also Molecular Screening Tests Table |
€ 840,00 |
|
|
CANCER (SOMATIC MUTATIOS) mehr |
CDH1 (CADHERIN 1, UVOMORULIN) |
Deletion-Duplication |
€ 720,00 |
|
|
CANCER (SOMATIC MUTATIOS) mehr |
CDH1 (CADHERIN 1, UVOMORULIN) |
Whole Gene |
€ 1008,00 |
|
|
CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, HYPERAMMONEMIA DUE TO mehr |
CPS1 (CARBAMOYL PHOSPHATE SYNTHETASE 1) |
Sequencing |
€ 3000,00 |
|
|
CARDIAC MYXOMA mehr |
PRKAR1A |
Sequencing |
€ 1140,00 |
|
|
CARDIAC RISK mehr |
AGT (ANGIOTENSIN I) |
M235T |
€ 120,00 |
|
|
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY mehr |
SCO2 |
Sequencing |
€ 660,00 |
|
|
CARDIOFACIOCUTANEOUS SNDROME, CFCY mehr |
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) |
Sequencing |
€ 540,00 |
|
|
CARDIOFACIOCUTANEOUS SYNDROME, CFC mehr |
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) |
Sequencing |
€ 1200,00 |
|
|
CARDIOFACIOCUTANEOUS SYNDROME, CFC mehr |
MAP2K1 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1, MEK1) |
Exons 2 and 3 |
€ 48,00 |
|
|
CARDIOFACIOCUTANEOUS SYNDROME, CFC mehr |
MAP2K1 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1, MEK1) |
Whole Gene |
€ 1440,00 |
|
|
CARDIOFACIOCUTANEOUS SYNDROME, CFC mehr |
MAP2K2 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2, MEK2) |
Exons 2 and 3 |
€ 48,00 |
|
|
CARDIOFACIOCUTANEOUS SYNDROME, CFC mehr |
MAP2K2 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2, MEK2) |
Whole Gene |
€ 1440,00 |
|
|
CARDIOMYOPATHY mehr |
A3260G |
Sequencing |
€ 180,00 |
|
|
CARDIOMYOPATHY mehr |
C3254G |
Sequencing |
€ 180,00 |
|
|
CARDIOMYOPATHY mehr |
C3303T |
Sequencing |
€ 180,00 |
|
|
CARDIOMYOPATHY mehr |
MTRNR1(RIBOSOMAL RNA, MITOCHONDRIAL, 12S) |
Sequencing |
€ 300,00 |
|
|
CARDIOMYOPATHY mehr |
MTTG (TRANSFER RNA, MITOCHONDRIAL, GLYCINE) |
Sequencing |
€ 1020,00 |
|
|
CARDIOMYOPATHY mehr |
MTTH (TRANSFER RNA, MITOCHONDRIAL, HISTIDINE) |
Sequencing |
€ 1020,00 |
|
|
CARDIOMYOPATHY mehr |
MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE) |
Sequencing |
€ 1020,00 |
|
|
CARDIOMYOPATHY mehr |
MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Sequencing |
€ 1020,00 |
|
|
CARDIOMYOPATHY mehr |
MTTL2 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2) |
Sequencing |
€ 1020,00 |
|
|
CARDIOMYOPATHY AND DEAFNESS mehr |
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
Sequencing |
€ 420,00 |
|
|
CARDIOMYOPATHY AND DEAFNESS mehr |
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
Sequencing |
€ 1020,00 |
|
|
CARDIOMYOPATHY, DILATED mehr |
CTF1 (CARDIOTROPHIN 1) |
Sequencing |
€ 960,00 |
|
|
CARDIOMYOPATHY, DILATED, 1G, CMD1G mehr |
TTN (TITIN, CONNECTIN) |
Exons 212-213 |
€ 456,00 |
|
|
CARDIOMYOPATHY, DILATED, 1I, CMD1I mehr |
DES (DESMIN) |
Sequencing |
€ 900,00 |
|
|
CARDIOMYOPATHY, DILATED, TYPE 1AA mehr |
ACTN2 (ACTININ, ALPHA-2) |
Sequencing |
€ 1800,00 |
|
|
CARDIOMYOPATHY, DILATED, TYPE 1C mehr |
LDB3 (LIM DOMAIN-BINDING 3, ZASP, CYPHER) |
Sequencing |
€ 1140,00 |
|
|
CARDIOMYOPATHY, DILATED, TYPE 1M mehr |
CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM DOMAIN PROTEIN, CARDIAC) |
Sequencing |
€ 1080,00 |
|
|
CARDIOMYOPATHY, DILATED, TYPE 1N mehr |
TCAP (TITIN-CAP) |
See also Next Generation Sequencing Platforms |
€ 840,00 |
|
|
CARDIOMYOPATHY, DILATED, TYPE 1O mehr |
ABCC9 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; SULFONYLUREA RECEPTOR 2; SUR2) |
Sequencing |
€ 2040,00 |
|
|
CARDIOMYOPATHY, DILATED, TYPE 1P mehr |
PLN (PHOSPHOLAMBAN) |
Sequencing |
€ 360,00 |
|
|
CARDIOMYOPATHY, DILATED, TYPE 1S mehr |
MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
€ 1440,00 |
|
|
CARDIOMYOPATHY, DILATED, TYPE 1W mehr |
VCL (VINCULIN, METAVINCULIN) |
Sequencing |
€ 1800,00 |
|
|
CARDIOMYOPATHY, DILATED, TYPE 1X mehr |
FKTN (FUKUTIN; FCMD) |
Sequencing |
€ 1080,00 |
|
|
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA mehr |
DSP (DESMOPLAKIN) |
See also PKP2, DSP, DSG2, DSC2 PANEL |
€ 600,00 |
|
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, TYPE 12 mehr |
CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM DOMAIN PROTEIN, CARDIAC) |
Sequencing |
€ 1080,00 |
|
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, TYPE 9 mehr |
TTN (TITIN, CONNECTIN) |
Exons 212-213 |
€ 456,00 |
|
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME mehr |
PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2, AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2) |
Sequencing |
€ 780,00 |
|
|
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 mehr |
TNNI3 (TROPONIN I, CARDIAC) |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
€ 480,00 |
|
|
CARDIOMYOPATHY, INFANTILE HISTIOCYTOID mehr |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
Sequencing |
€ 576,00 |
|
|
CARNEY COMPLEX, TYPE 1 mehr |
PRKAR1A |
Sequencing |
€ 1140,00 |
|
|
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY mehr |
SLC22A5 (SOLUTE CARRIER FAMILY 22, ORGANIC CATION TRANSPORTER, MEMBER 5, OCTN2) |
Sequencing |
€ 840,00 |
|
|
CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY mehr |
CPT1A (CARNITINE PALMITOYLTRANSFERASE 1, LIVER, CPT1) |
Sequencing |
€ 1440,00 |
|
|
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET mehr |
CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) |
Sequencing |
€ 780,00 |
|
|
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL mehr |
CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) |
Sequencing |
€ 780,00 |
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY mehr |
CPT2 |
Sequencing |
4 Weeks |
€ 550,00 |
|
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY mehr |
SLC25A20 (SOLUTE CARRIER FAMILY 25, MEMBER 20, CARNITINE-ACYLCARNITINE TRANSLOCASE, CARNITINE-ACYLCARNITINE CARRIER) |
Sequencing |
€ 1440,00 |
|
|
CARTILAGE-HAIR HYPOPLASIA mehr |
RMRP (MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF) |
Sequencing |
€ 420,00 |
|
|
CASPASE 8 DEFICIENCY mehr |
CASP8 (CASPASE 8, FLICE, MCH5) |
Sequencing |
€ 1548,00 |
|
|
CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY mehr |
PAX6 (PAIRED BOX GENE 6) |
Whole Gene and Deletion Analysis (MLPA) |
€ 1320,00 |
|
|
Catecholaminergic Polymorphic Ventricular Tachycardia mehr |
Sequencing of 2 genes: RYR2, CASQ2 |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 2900,00 |
|
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT) mehr |
Cardiac ryanodine receptor channel (RYR2 gene with 105 exons) for CPVT1, Calsequestrin (CASQ2 gene with 11 exons) for CPVT2 |
2 genes |
€ 3360,00 |
|
|
CELIAC DIDEASE mehr |
DQA1, DQB1 and DRB1 |
*0501, *0201 and *04 |
€ 288,00 |
|
|
Celiac disease mehr |
HLA-DQ2.5&8 |
TAG-SNP genotyping |
1 Day - 2 Weeks |
€ 80,00 |
|
Central diabetes insipidus mehr |
AVP |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 180,00 |
|
CEREBELLAR HEMANGIOMA mehr |
VHL |
Whole Gene and Deletions-Duplications |
€ 720,00 |
|
|
CEREBRAL AMYLOID ANGIOPATHY mehr |
APP |
Exons 16 and 17 harbouring the majority of mutations |
€ 480,00 |
|
|
CEREBRAL AMYLOID ANGIOPATHY mehr |
APP |
Deletion-Duplication |
€ 720,00 |
|
|
CEREBRAL AMYLOID ANGIOPATHY mehr |
APP |
Whole Gene |
€ 840,00 |
|
|
CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL mehr |
NOTCH3 |
Exons 3 and 4 harboring the majority of mutations |
€ 600,00 |
|
|
CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL mehr |
NOTCH3 |
Whole Gene |
7 Weeks |
€ 2155,00 |
|
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 2 mehr |
CCM2 (MALCAVERNIN) |
Sequencing |
€ 2640,00 |
|
|
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 3 mehr |
PDCD10 (PROGRAMMED CELL DEATH 10) |
Sequencing |
€ 2040,00 |
|
|
CEREBRAL GIGANTISM mehr |
NSD1 |
Sequencing |
€ 1080,00 |
|
|
Cerebrotendinous Xanthomatosis mehr |
CYP27A1 |
Sequencing |
3 Weeks |
€ 1020,00 |
|
CEROID LIPOFUCSINOSIS, CLN1 mehr |
PPT1 (PALMITOYL-PROTEIN THIOESTERASE) |
Sequencing |
€ 1020,00 |
|
|
CEROID LIPOFUCSINOSIS, CLN2 mehr |
CLN2 (TRIPEPTIDYL PEPTIDASE I; TPP1) |
2 Common Mutations: R208X and IVS5-1G>C |
€ 420,00 |
|
|
CEROID LIPOFUCSINOSIS, CLN2 mehr |
CLN2 (TRIPEPTIDYL PEPTIDASE I; TPP1) |
Whole Gene |
€ 1080,00 |
|
|
CEROID LIPOFUCSINOSIS, CLN3 mehr |
CLN3 |
Common 1kb Deletion |
€ 420,00 |
|
|
CEROID LIPOFUCSINOSIS, CLN3 mehr |
CLN3 |
Whole Gene |
€ 1080,00 |
|
|
CEROID LIPOFUCSINOSIS, CLN5 mehr |
CLN5 |
Sequencing |
€ 840,00 |
|
|
CEROID LIPOFUCSINOSIS, CLN6 mehr |
CLN6 |
Sequencing |
€ 756,00 |
|
|
CEROID LIPOFUCSINOSIS, CLN8 mehr |
CLN8 |
Sequencing |
€ 840,00 |
|
|
CEROID LIPOFUSCINOSIS, CLN mehr |
CLN PANEL: CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8, CLN10 |
Sequencing |
€ 2640,00 |
|
|
CHANARIN-DORFMAN DISEASE mehr |
CGI58 (COMPARATIVE GENE IDENTIFICATION 58, ABHD5) |
Sequencing |
€ 1140,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS mehr |
PMP22 (PERIPHERAL MYELIN PROTEIN) |
Duplication |
€ 540,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS mehr |
PMP22 (PERIPHERAL MYELIN PROTEIN) |
Whole Gene |
€ 720,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A, CMT2A mehr |
KIF1B (KINESIN FAMILY MEMBER 1B) |
Sequencing |
€ 3600,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A, CMT2A mehr |
MFN2 (MITOFUSIN 2) |
Sequencing |
4 Weeks |
€ 720,00 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B, CMT2B mehr |
RAB7 (RAS-ASSOCIATED PROTEIN RAB7) |
Sequencing |
€ 720,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1, CMT2B1 mehr |
LMNA (LAMIN A/C) |
sequencing of the entire gene |
40 days |
€ 634,00 |
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D, CMT2D mehr |
GARS (GLYCYL T RNA SYNTHETASE ) |
Sequencing |
€ 1800,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E, CMT2E mehr |
NEFL (NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE) |
Sequencing |
€ 720,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I, CMT2I mehr |
MPZ (MYELIN PROTEN ZERO, P0) |
Sequencing |
€ 600,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J, CMT2J mehr |
MPZ (MYELIN PROTEN ZERO, P0) |
Sequencing |
€ 600,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, CMT2K mehr |
GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) |
Sequencing |
€ 960,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, CMT2L mehr |
HSPB8 (HEAT-SHOCK 22-KD PROTEIN 8) |
Sequencing |
€ 660,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS (AUTOSOMAL RECESSIVE) mehr |
GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) |
Sequencing |
€ 960,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A, CMT1A mehr |
PMP22 (PERIPHERAL MYELIN PROTEIN) |
Duplication |
€ 540,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A, CMT1A mehr |
PMP22 (PERIPHERAL MYELIN PROTEIN) |
Whole Gene |
€ 720,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C, CMT1C, HMSN1C mehr |
LITAF (LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR) |
Sequencing |
€ 480,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F, CMT1F mehr |
NEFL (NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE) |
Sequencing |
€ 720,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4A, CMT4A (AUTOSOMAL RECESSIVE) mehr |
GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) |
Sequencing |
3 Weeks |
€ 523,00 |
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C, CMT4C (AUTOSOMAL RECESSIVE) mehr |
SH3TC2 (SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2) |
Sequencing |
€ 2040,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4E, CMT4E mehr |
EGR2 (EARLY GROWTH RESPONSE 2) |
Sequencing |
€ 600,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F mehr |
EGR2 (EARLY GROWTH RESPONSE 2) |
Sequencing |
€ 600,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F mehr |
MPZ (MYELIN PROTEN ZERO, P0) |
Sequencing |
€ 600,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F mehr |
PMP22 (PERIPHERAL MYELIN PROTEIN) |
Whole Gene |
€ 720,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F mehr |
PRX (PERIAXIN) |
Sequencing |
€ 1320,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, CMTDID mehr |
MPZ (MYELIN PROTEN ZERO, P0) |
Sequencing |
€ 600,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE A, CMTRIA (AUTOSOMAL RECESSIVE) mehr |
GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) |
Sequencing |
€ 960,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE B, CMTDIB, (AUTOSOMAL DOMINANT) mehr |
DNM2 (DYNAMIN 2, DYN2) |
Sequencing |
€ 1860,00 |
|
|
Charcot-Marie-Tooth disease, type 1A(CMT1A) mehr |
PMP22 |
Duplications (MLPA*) |
1 Week |
€ 230,00 |
|
Charcot-Marie-Tooth disease, type 1B(CMT1B) mehr |
MPZ |
Sequencing |
3 Weeks |
€ 419,00 |
|
Charcot-Marie-Tooth disease, type 1D(CMT1D) mehr |
EGR2 |
Sequencing |
3 Weeks |
€ 330,00 |
|
Charcot-Marie-Tooth disease, type 2A(CMT2A) mehr |
MFN2 |
Mutation scanning (DGGE) |
8 Weeks |
€ 990,00 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2 mehr |
MTMR2 (MYOTUBULARIN-RELATED PROTEIN 2) |
Sequencing |
€ 1064,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CMT4B2 mehr |
SBF2 (SET-BINDING FACTOR 2; MYOTUBULARIN-RELATED 13; MTMR13) |
Exons 14, 23, 27, 32 |
€ 540,00 |
|
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CMT4B2 mehr |
SBF2 (SET-BINDING FACTOR 2; MYOTUBULARIN-RELATED 13; MTMR13) |
Whole Gene |
€ 3120,00 |
|
|
Charcot-Marie-Tooth disease, type 4D mehr |
NRDG1 |
Detection of the Lom mutation in the NRDG1 gene |
3 Weeks |
€ 313,00 |
|
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CMT4D mehr |
NDRG1 (NMYC DOWNSTREAM-REGULATED GENE 1; PROTEIN REGULATED BY OXYGEN 1; PROXY1) |
Sequencing |
€ 1320,00 |
|
|
Charcot-Marie-Tooth disease, X-linked (CMTX1) mehr |
GJB1 |
Sequencing |
3 Weeks |
€ 330,00 |
|
Charcot-Marie-Tooth type 1E mehr |
PMP22 |
Sequencing |
4 Weeks |
€ 440,00 |
|
Charcot-Marie-Tooth-type 1a mehr |
PMP22-gene |
MLPA analysis for PMP22-duplication |
1 Week |
€ 363,00 |
|
CHARGE SYNDROME mehr |
CHD7 (CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7) |
Sequencing |
€ 2160,00 |
|
|
Cherubismus mehr |
SH3BP2 |
Sequencingexon 9 |
4 Weeks |
€ 130,00 |
|
CHILD SYNDROME mehr |
NSDHL (NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN) |
Sequencing |
€ 1200,00 |
|
|
CHLORAMPHENICOL RESISTANCE mehr |
MTRNR2(RIBOSOMAL RNA, MITOCHONDRIAL, 16S) |
Sequencing |
€ 300,00 |
|
|
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC mehr |
ABCB11 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11) |
Sequencing |
€ 2640,00 |
|
|
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC mehr |
ATP8B1 (FIC1) |
Sequencing |
€ 2640,00 |
|
|
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1 mehr |
ABCB11 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11) |
Sequencing |
€ 2640,00 |
|
|
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1 mehr |
ATP8B1 (FIC1) |
Sequencing |
€ 2640,00 |
|
|
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3 mehr |
ABCB4 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; MULTIDRUG RESISTANCE 3; MDR3; P-GLYCOPROTEIN 3; PGY3) |
Sequencing |
€ 2640,00 |
|
|
CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY mehr |
CETP (CHOLESTERYL ESTER TRANSFER PROTEIN, LIPID TRANSFER PROTEIN I) |
Sequencing |
€ 960,00 |
|
|
Chondrodysplasia punctata(CDPX2) mehr |
EBP |
Sequencing |
3 Weeks |
€ 540,00 |
|
Chondrodysplasia punctata(CDPX2) mehr |
PEX7 |
Sequencing |
3 Weeks |
€ 990,00 |
|
Chondrodysplasia punctata(CDPX2) mehr |
ARSE |
Sequencing |
6 Weeks |
€ 1045,00 |
|
CHONDRODYSPLASIA, GREBE TYPE mehr |
GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) |
Sequencing |
€ 432,00 |
|
|
CHOREA, HEREDITARY BENIGN mehr |
TITF1 (THYROID NUCLEAR FACTOR, NKX2A) |
Sequencing |
€ 648,00 |
|
|
CHOROIDEREMIA mehr |
CHM (REP1, RAB ESCORT PROTEIN 1, RAB GERANYLGERANYL TRANSFERASE) |
Sequencing |
€ 660,00 |
|
|
CHRONIC EOSINOPHILIC LEUKEMIA mehr |
del(4)(q12q12) WITH FIP1L1-PDGFRA FUSION |
GLEEVEC / IMATINIB RESPONSIVENESS |
€ 360,00 |
|
|
CHRONIC EOSINOPHILIC LEUKEMIA mehr |
FIP1L1/PDGFRA |
FUSION OF FIP1L1 WITH PDGFRA (GLEEVEC/IMATINIB RESPONSIVENESS) |
€ 360,00 |
|
|
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-NEGATIVE FORM mehr |
CYBA (p22 PHOX) |
Sequencing |
€ 960,00 |
|
|
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 1 mehr |
NCF1 (p47 PHOX) |
Sequencing |
€ 420,00 |
|
|
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 2 mehr |
NCF2 (p67 PHOX) |
Sequencing |
€ 2160,00 |
|
|
CHRONIC GRANULOMATOUS DISEASE (X-LINKED) mehr |
CYBB (p91 PHOX) |
Sequencing |
€ 1320,00 |
|
|
CHRONIC MYELOGENOUS LEUKEMIA (CML) AND ACUTE LEUKEMIA mehr |
EXONS 4-10 MUTATIONS IN ABL (INCLUDING T315I) |
GLEEVEC / IMATINIB RESPONSIVENESS |
€ 528,00 |
|
|
CHRONIC MYELOGENOUS LEUKEMIA (CML) AND ACUTE LEUKEMIA mehr |
FUSION OF ABL TO BCR |
GLEEVEC / IMATINIB RESPONSIVENESS |
€ 240,00 |
|
|
CHRONIC MYELOID LEUKEMIA AND ACUTE LEUKEMIA mehr |
Mutations in Exons 4-10 of the ABL Gene (Including T315I) |
Gleevec/Imatinib Responsiveness Diagnostic & Follow-up |
€ 600,00 |
|
|
CHRONIC MYELOID LEUKEMIA, CML mehr |
BCR / ABL |
t(9;22) |
€ 480,00 |
|
|
CHRONIC MYELOMONOCYTIC LEUKEMIA (CMML) mehr |
V617F Mutation in JAK2 |
Diagnostic |
€ 360,00 |
|
|
CHUVASH POLYCYTHEMIA mehr |
VHL |
Whole Gene and Deletions-Duplications |
€ 720,00 |
|
|
CINCA SYNDROME mehr |
CIAS1 (CRYOPYRIN) |
Sequencing |
€ 780,00 |
|
|
CIRRHOSIS DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY mehr |
PHKG2 (PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2) |
Sequencing |
€ 840,00 |
|
|
Citrullinemia mehr |
ASS1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 770,00 |
|
Citrullinemia mehr |
ASS1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
CItrullinemia, type ii, adult-onset; ctln2 mehr |
SLC25A13 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 935,00 |
|
CItrullinemia, type ii, neonatal-onset mehr |
SLC25A13 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 935,00 |
|
Classic Bartter syndrome mehr |
CLCNKB |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1100,00 |
|
Classic Bartter syndrome mehr |
CLCNKB |
Multiplex Ligation-Dependent Probe Amplification (14 Exons: Ex 1,2,3,5,6,8,10,11,13,14,15,17,18,19) |
2-4 Weeks |
€ 385,00 |
|
Classic Bartter syndrome mehr |
CLCNKB |
Carrier testing |
2 Weeks |
€ 180,00 |
|
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL DIFFUSE mehr |
CDH1 (CADHERIN 1, UVOMORULIN) |
Deletion-Duplication |
€ 720,00 |
|
|
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL DIFFUSE mehr |
CDH1 (CADHERIN 1, UVOMORULIN) |
Whole Gene |
€ 1008,00 |
|
|
CLEIDOCRANIAL DYSPLASIA, CCD mehr |
RUNX2 (CBFA 1) |
sequencing of complete gene |
5 weeks |
€ 742,00 |
|
CLOUSTON SYNDROME mehr |
GJB6 (CONNEXIN 30, CX30) |
Sequencing |
€ 240,00 |
|
|
CML mehr |
BCR / ABL |
t(9;22)(q34;q11) Diagnostic Also quantitative determination available |
€ 360,00 |
|
|
CML mehr |
BCR / ABL |
t(9;22)(q34;q11) Follow-up Also quantitative determination available |
€ 360,00 |
|
|
CNGB3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3) mehr |
CNGB3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3) |
(request price) |
€ 0,00 |
|
|
COATS DISEASE mehr |
NDP (NORRIN) |
Sequencing |
€ 540,00 |
|
|
COCKAYNE SYNDROME, TYPE 1 mehr |
ERCC8 (EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; CSA) |
Sequencing |
€ 1200,00 |
|
|
COCKAYNE SYNDROME, TYPE 2 mehr |
ERCC6(EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; CSB) |
Sequencing |
€ 720,00 |
|
|
COENZYME Q10 DEFICIENCY mehr |
COQ2 (COQ2, S. CEREVISIAE, HOMOLOG OF; PARAHYDROXYBENZOATE-POLYPRENYLTRANSFERASE, MITOCHONDRIAL) |
Sequencing |
€ 780,00 |
|
|
COENZYME Q10 DEFICIENCY mehr |
PDSS1 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1) |
Sequencing |
€ 960,00 |
|
|
COENZYME Q10 DEFICIENCY mehr |
PDSS2 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2) |
Sequencing |
€ 780,00 |
|
|
Coffin-Lowry syndrome mehr |
RSK2 |
Complete sequencing of the RSK2 gene |
6 weeks |
€ 847,00 |
|
COHEN SYNDROME, COH1 mehr |
COH1 |
Exon 23, including the ?Finnish mutation? (c.3348-3349delCT) |
€ 312,00 |
|
|
COHEN SYNDROME, COH1 mehr |
COH1 |
Whole Gene |
€ 5760,00 |
|
|
COL2A1 mehr |
COL2A1 |
Sequencing |
€ 1500,00 |
|
|
COLD URTICARIA, FCU mehr |
CIAS1 (CRYOPYRIN) |
Sequencing |
€ 780,00 |
|
|
COLLODION FETUS mehr |
TGM1 (TRANSGLUTAMINASE) |
Sequencing |
€ 1680,00 |
|
|
Colon-cancer, hereditary non-polyposis (HNPCC) mehr |
MLH1-gene |
1. stage: microsatellite instability |
3 Weeks |
€ 336,00 |
|
Colon-cancer, hereditary non-polyposis (HNPCC) mehr |
MLH1-gene |
Sequencing |
5 Weeks |
€ 575,00 |
|
Colon-cancer, hereditary non-polyposis (HNPCC) mehr |
MLH1-gene |
MLPA analysis |
2-3 Weeks |
€ 363,00 |
|
Colon-cancer, hereditary non-polyposis (HNPCC) mehr |
MSH2-gene |
Sequencing |
5 Weeks |
€ 664,00 |
|
Colon-cancer, hereditary non-polyposis (HNPCC) mehr |
MSH2-gene |
MLPA analysis |
2-3 Weeks |
€ 363,00 |
|
Colon-cancer, hereditary non-polyposis (HNPCC) mehr |
MLH1/MSH2-gene |
Sequencing and MLPA analysis |
2-3 Weeks |
€ 1540,00 |
|
Colon-cancer, hereditary non-polyposis (HNPCC) mehr |
MLH1/MSH2-gene |
MLPA analysis for MLH1- and MSH2-gene |
2-3 Weeks |
€ 363,00 |
|
COLORECTAL ADENOMATOUS POLYPOSIS (AUTOSOMAL RECESSIVE) mehr |
MYH (MUTYH, MUTY, E. COLI, HOMOLOG OF) |
Whole Gene |
€ 1080,00 |
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 1 mehr |
MLH1, MSH2 and MSH6 |
3 Genes (Whole Gene and MLPA) |
€ 2040,00 |
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 1 mehr |
MSH6 |
Sequencing |
€ 836,00 |
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2 mehr |
MLH1 |
See also MLH1, MSH2 and MSH6 |
€ 1020,00 |
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2 mehr |
MLH1, MSH2 and MSH6 |
3 Genes (Whole Gene and MLPA) |
€ 2040,00 |
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2 mehr |
MSH2 |
See also MLH1, MSH2 and MSH6 |
€ 900,00 |
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2 mehr |
MSH6 |
Sequencing |
€ 836,00 |
|
|
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2 mehr |
PMS2 |
Sequencing |
€ 960,00 |
|
|
Colorectal cancer, hereditary nonpolyposis, type 1 (HNPCC1) mehr |
MSH2 |
Mutation scanning (DGGE); deletions (MLPA*) |
8 Weeks |
€ 1100,00 |
|
Colorectal cancer, hereditary nonpolyposis, type 2 (HNPCC2) mehr |
MLH1 |
Mutation scanning (DGGE); deletions (MLPA*) |
8 Weeks |
€ 1100,00 |
|
COLORECTAL CANCER, SOMATIC mehr |
AXIN2 (AXIS INHIBITOR 2, CONDUCTIN) |
Sequencing |
€ 960,00 |
|
|
COLORECTAL CANCER, SOMATIC mehr |
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) |
Sequencing |
€ 1200,00 |
|
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, COXPD3 mehr |
TSFM (Ts TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL) |
Sequencing |
€ 600,00 |
|
|
COMMON VARIABLE IMMUNODEFICIENCY mehr |
TNFRSF13 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B, TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR, TACI1) |
Sequencing |
€ 1200,00 |
|
|
COMPLEMENT COMPONENT 3 DEFICIENCY (AUTOSOMAL RECESSIVE) mehr |
C3 (COMPLEMENT COMPONENT 3) |
Sequencing |
€ 1800,00 |
|
|
COMPLEMENT FACTOR 1 DEFICIENCY mehr |
CFI (I FACTOR, COMPLEMENT COMPONENT 3 INACTIVATOR) |
Sequencing |
€ 1080,00 |
|
|
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF mehr |
MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1) |
Sequencing |
€ 1320,00 |
|
|
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF mehr |
MTND2 (COMPLEX 1, SUBUNIT ND2, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND2NADH DEHYDROGENASE, SUBUNIT 2) |
Sequencing |
€ 1320,00 |
|
|
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF mehr |
MTND3 (COMPLEX 1, SUBUNIT ND3, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND3NADH DEHYDROGENASE, SUBUNIT 3) |
Sequencing |
€ 1320,00 |
|
|
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF mehr |
MTND4 (COMPLEX 1, SUBUNIT ND4, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4NADH DEHYDROGENASE, SUBUNIT 4) |
Sequencing |
€ 1320,00 |
|
|
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF mehr |
MTND5 (COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5NADH DEHYDROGENASE, SUBUNIT 5) |
Sequencing |
€ 1320,00 |
|
|
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF mehr |
MTND6 (COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6NADH DEHYDROGENASE, SUBUNIT 6) |
Sequencing |
€ 1320,00 |
|
|
COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF mehr |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
Sequencing |
€ 576,00 |
|
|
COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF mehr |
MTCO1 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE 1; COX1) |
Sequencing |
€ 948,00 |
|
|
COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF mehr |
MTCO2 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 2, CYTOCHROME c OXIDASE 2; COX2) |
Sequencing |
€ 948,00 |
|
|
COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF mehr |
MTCO3 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 3, CYTOCHROME c OXIDASE 3; COX3) |
Sequencing |
€ 948,00 |
|
|
CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1 mehr |
RPGR (RETINITIS PIGMENTOSA GTPase REGULATOR) |
Exons 1-15 and ORF15 |
€ 1056,00 |
|
|
CONE-ROD DYSTROPHY, TYPE 6, CORD6 mehr |
GUCY2D (GUANYLATE CYCLASE 2D, MEMBRANE) |
Sequencing |
€ 1560,00 |
|
|
CONE-ROD DYSTROPHY, TYPE 9, CORD9 mehr |
RPGRIP1 (RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN, RPGR-INTERACTING PROTEIN) |
Sequencing |
€ 1080,00 |
|
|
Congenital Adrenal Hyperplasia due to 21-hydr mehr |
CYP21A2 |
Detection of the most frequent mutations on the CYP21A2 gene |
€ 620,00 |
|
|
CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CBAVD mehr |
CFTR |
30 Mutations Kit |
€ 300,00 |
|
|
CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CBAVD mehr |
CFTR |
MLPA |
€ 420,00 |
|
|
CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CBAVD mehr |
CFTR |
200 Mutations Kit |
€ 480,00 |
|
|
Congenital bilateral aplasia of the vas deferens mehr |
CFTR-gene |
Screening for 36 mutations (dot blot) |
1-6 Weeks |
€ 913,00 |
|
Congenital bilateral aplasia of the vas deferens mehr |
CFTR-gene |
MLPA |
2 Weeks |
€ 363,00 |
|
Congenital bilateral aplasia of the vas deferens mehr |
CFTR-gene |
Sequencing |
2 Weeks |
€ 1080,00 |
|
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CCFDN mehr |
CTDP1 (C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1; FCP1) |
1 Mutation: IVS6, C-T, +389 |
€ 300,00 |
|
|
CONGENITAL CENTRAL HYPOVENTILATION SYNDROME mehr |
PHOX2B |
Sequencing |
€ 720,00 |
|
|
CONGENITAL FIBROSARCOMA mehr |
ETV6 / NTRK3 |
t(12;15) |
€ 480,00 |
|
|
CONGENITAL HEART DISEASE (X-LINKED) mehr |
ZIC3 |
Sequencing |
€ 660,00 |
|
|
Congenital nephrotic syndrome of the Finnish type mehr |
NPHS1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Congenital nephrotic syndrome of the Finnish type mehr |
NPHS1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Congenital nephrotic syndrome, type 3 mehr |
PLCE1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Congenital nephrotic syndrome, type 3 mehr |
PLCE1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
CONOTRUNCAL ANOMALY FACE SYNDROME mehr |
TBX1 (T-BOX 1) |
Sequencing |
€ 1500,00 |
|
|
CONTRACTURAL CONGENITAL ARACHNODACTYLY, CCA mehr |
FBN2 (FIBRILLIN 2) |
15 exons (exons 15, 22 -33 , 35-36) |
€ 1560,00 |
|
|
COPROPORPHYRIA mehr |
CPO |
Sequencing |
4 Weeks |
€ 720,00 |
|
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 PPCD1 mehr |
VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF) |
Sequencing |
€ 1020,00 |
|
|
CORNELIA DE LANGE SYNDROME (X-LINKED) mehr |
SMC1A (STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A, SMC1L1, SMC1) |
Sequencing |
€ 1560,00 |
|
|
CORNELIA DE LANGE SYNDROME, TYPE 3 mehr |
SMC3 (STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; CHONDROITIN SULFATE PROTEOGLYCAN 6; BAMACAN) |
Sequencing |
€ 1440,00 |
|
|
Cornelia-de-Lange syndrome(CDL) mehr |
NIPBL |
Mutation scanning (DGGE) |
7 Weeks |
€ 1100,00 |
|
Cornelia-de-Lange syndrome(CDL) mehr |
SMC1L1 |
Mutation scanning (DGGE) |
7 Weeks |
€ 880,00 |
|
CORONARY HEART DISEASE mehr |
APOE (APOLIPOPROTEIN E) |
E2, E3, E4 Genotype |
€ 120,00 |
|
|
CORONARY SPASM mehr |
NOS3 (ENOS, ENDOTHELIAL NITROGEN - MONOXIDE SYNTHASE 3) |
G894T (E298D) |
€ 144,00 |
|
|
CORPUS CALLOSUM AGENESIS (X-LINKED), ACC mehr |
L1 (L1CAM) |
Sequencing |
€ 1080,00 |
|
|
CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY mehr |
SLC12A6 |
Sequencing |
€ 180,00 |
|
|
CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY mehr |
CYP11B2 (CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE, STEROID 18-OXIDASE, ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE) |
Sequencing |
€ 840,00 |
|
|
Costello syndrome mehr |
HRAS |
Sequencing |
3 Weeks |
€ 440,00 |
|
COSTELLO SYNDROME mehr |
HRAS (V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG) |
1 Exon: Exon 2 |
€ 360,00 |
|
|
COSTELLO SYNDROME mehr |
HRAS (V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG) |
4 Exons: Exons 2, 3, 4 and 6 |
€ 720,00 |
|
|
COWDEN DISEASE mehr |
BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3) |
Sequencing |
€ 2520,00 |
|
|
COWDEN DISEASE mehr |
PTEN |
Whole Gene and Deletions-Duplications |
€ 2040,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
4977 bp Deletion |
Sequencing |
€ 360,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
A12308G |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
A3243G |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
A5692G |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
G12315A |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
G3316A |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
G4298A |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
G4309A |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
G5703A |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
G8342A |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
Sequencing |
€ 1020,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Sequencing |
€ 1020,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
MTTY (TRANSFER RNA, MITOCHONDRIAL, TYROSINE) |
Sequencing |
€ 1020,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
T12311C |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
T3250C |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
T4274C |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
T4285C |
Sequencing |
€ 180,00 |
|
|
CPEO (CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA) mehr |
T5628C |
Sequencing |
€ 180,00 |
|
|
CRANIOFACIAL ANOMALIES, EMPTY SELLA TURCICA, CORNEAL ENDOTHELIAL CHANGES, AND ABNORMAL RETINAL AND A mehr |
VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF) |
Sequencing |
€ 1020,00 |
|
|
CRANIOFRONTONASAL SYNDROME, CFNS mehr |
EFNB1 (EPHRIN B1, EPLG2, LERK2, EFL3) |
Sequencing |
€ 1104,00 |
|
|
Craniometaphyseal dysplasia mehr |
ANKH |
Sequencing of the exons 9 and 10 of the ANKH gene |
4 Weeks |
€ 279,00 |
|
Craniosynostosis mehr |
FGFR1 |
Sequencing of the exon 7 in FGFR1 gene |
€ 248,00 |
|
|
CRANIOSYNOSTOSIS, TYPE 2 mehr |
MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2) |
Sequencing |
€ 960,00 |
|
|
CRASH SYNDROME mehr |
L1 (L1CAM) |
Sequencing |
€ 1080,00 |
|
|
CREATINE DEFICIENCY SYNDROME (X-LINKED) mehr |
SLC6A8 (CREATINE TRANSPORTER, CT1) |
Sequencing |
€ 1800,00 |
|
|
CREUTZFELDT-JAKOB DISEASE, CJD mehr |
PRNP (PRION PROTEIN) |
Sequencing |
€ 360,00 |
|
|
CRI DU CHAT mehr |
5p15.2 deletion |
Sequencing |
€ 480,00 |
|
|
Crigler-Najjar syndrome mehr |
UGT1A1 |
Sequencing |
5 Weeks |
€ 312,00 |
|
Crigler-Najjar syndrome 1 and 2 mehr |
UGT1A1-gene |
Promotor TA-repeat (= Gilbert promotor) included |
1-2 Weeks |
€ 935,00 |
|
CRIGLER-NAJJAR SYNDROME TYPE 2 mehr |
UGT1A1 (UDP-GLYCURONOSYL TRANSFERASE) |
Sequencing |
€ 840,00 |
|
|
CROHN DISEASE mehr |
CARD15 (NOD2) |
R702W, G908R, 1007fs |
€ 288,00 |
|
|
CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS mehr |
FGFR3 |
Sequencing |
€ 600,00 |
|
|
Crouzon syndrome mehr |
FGFR2 |
Sequencing |
3 Weeks |
€ 600,00 |
|
Currarino syndrome mehr |
HLXB9 |
Sequencing |
5 Weeks |
€ 715,00 |
|
CUTANEOUS MALIGNANT MELANOMA 2, CMM2 mehr |
P16 (CDKN2) |
Sequencing |
€ 456,00 |
|
|
CUTIS LAXA (AUTOSOMAL DOMINANT) mehr |
ELN (ELASTIN) |
MLPA |
€ 480,00 |
|
|
CUTIS LAXA (AUTOSOMAL DOMINANT) mehr |
ELN (ELASTIN) |
Sequencing |
€ 1560,00 |
|
|
CUTIS LAXA (AUTOSOMAL DOMINANT) mehr |
ELN (ELASTIN) |
Sequencing and MLPA |
€ 1920,00 |
|
|
CUTIS LAXA (AUTOSOMAL DOMINANT) mehr |
FBLN5 (FIBULIN 5) |
Sequencing |
€ 960,00 |
|
|
CUTIS LAXA (AUTOSOMAL RECESSIVE) mehr |
FBLN4 (FIBULIN 4, EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2, EFEMP2) |
Sequencing |
€ 960,00 |
|
|
CUTIS LAXA (AUTOSOMAL RECESSIVE) mehr |
FBLN5 (FIBULIN 5) |
Sequencing |
€ 960,00 |
|
|
CX26 (CONNEXIN 26) mehr |
CX26 (CONNEXIN 26) |
See GJB2 ( |
€ 0,00 |
|
|
CX30 (CONNEXIN 30) mehr |
CX30 (CONNEXIN 30) |
See GJB6 ( |
€ 0,00 |
|
|
CX30.3 (CONNEXIN 30.3) mehr |
CX30.3 (CONNEXIN 30.3) |
See GJB4 ( |
€ 0,00 |
|
|
CX31 (CONNEXIN 31) mehr |
CX31 (CONNEXIN 31) |
See GJB3 ( |
€ 0,00 |
|
|
CYCLIC HEMATOPOIESIS mehr |
ELA2 (ELASTASE 2) |
Sequencing |
€ 840,00 |
|
|
CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS mehr |
KRT1 (KERATIN 1) |
Hotspots |
€ 480,00 |
|
|
CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS mehr |
KRT1 (KERATIN 1) |
Whole Gene |
€ 1200,00 |
|
|
Cystic Fibrosis mehr |
CFTR-gene |
Screening for 36 mutations (dot blot) |
1-6 Weeks |
€ 902,00 |
|
Cystic Fibrosis mehr |
CFTR-gene |
MLPA |
2 Weeks |
€ 363,00 |
|
Cystic Fibrosis mehr |
CFTR-gene |
Sequencing |
2 Weeks |
€ 810,00 |
|
Cystic Fibrosis mehr |
CFTR-gene |
Analysis for the Del 508 mutation only- |
2 Weeks |
€ 110,00 |
|
Cystic Fibrosis mehr |
CFTR-gene |
Analysis for the TG-repeat only |
2 Weeks |
€ 200,00 |
|
Cystic Fibrosis(CF) mehr |
CFTR |
OLA to detect a panel of mutations |
1 Week |
€ 385,00 |
|
CYSTIC FIBROSIS, CF mehr |
CFTR |
30 Mutations Kit |
€ 300,00 |
|
|
CYSTIC FIBROSIS, CF mehr |
CFTR |
200 Mutations Kit |
€ 480,00 |
|
|
CYSTINOSIS, ADULT NONNEPHROPATHIC mehr |
CTNS (CYSTINOSIN) |
Common 56 kb Deletion |
€ 300,00 |
|
|
CYSTINOSIS, ADULT NONNEPHROPATHIC mehr |
CTNS (CYSTINOSIN) |
Whole Gene |
€ 1440,00 |
|
|
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE mehr |
CTNS (CYSTINOSIN) |
Common 56 kb Deletion |
€ 300,00 |
|
|
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE mehr |
CTNS (CYSTINOSIN) |
Whole Gene |
€ 1440,00 |
|
|
CYSTINOSIS, NEPHROPATHIC mehr |
CTNS (CYSTINOSIN) |
Common 56 kb Deletion |
€ 300,00 |
|
|
CYSTINOSIS, NEPHROPATHIC mehr |
CTNS (CYSTINOSIN) |
Whole Gene |
€ 1440,00 |
|
|
Cystinuria mehr |
SLC3A1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 550,00 |
|
Cystinuria mehr |
SLC3A1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Cystinuria mehr |
SLC7A9 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 550,00 |
|
Cystinuria mehr |
SLC7A9 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
CYSTINURIA TYPE 1 mehr |
SLC3A1 (RBAT) (analyzed together with SLC7A9) |
10 mutations in SLC3A1: Thr216Met, Ser217Arg, Arg365Trp, Arg365Leu, Arg362Cys, Met467Thr, Met467Lys, 1500+1G/T, Glu483X duplication of exons 5-9 includes 7 mutations in SLC7A9: Gly105Arg, Thr123Met, Phe140Ser, Ala182Thr, 747delG, 244delE, Arg333Trp |
€ 840,00 |
|
|
CYSTINURIA TYPE 1 mehr |
SLC7A9 (analyzed together with SLC3A1) |
7 mutations in SLC7A9: Gly105Arg, Thr123Met, Phe140Ser, Ala182Thr, 747delG, 244delE, Arg333Trp includes 10 mutations in SLC3A1: Thr216Met, Ser217Arg, Arg365Trp, Arg365Leu, Arg362Cys, Met467Thr, Met467Lys, 1500+1G/T, Glu483X duplication of exons 5-9 |
€ 840,00 |
|
|
CYSTINURIA TYPE 1 mehr |
SLC7A9 (analyzed together with SLC3A1) |
7 mutations in SLC7A9: Gly105Arg, Thr123Met, Phe140Ser, Ala182Thr, 747delG, 244delE, Arg333Trp includes 10 mutations in SLC3A1: Thr216Met, Ser217Arg, Arg365Trp, Arg365Leu, Arg362Cys, Met467Thr, Met467Lys, 1500+1G/T, Glu483X duplication of exons 5-9 |
€ 840,00 |
|
|
CYSTINURIA TYPE 1 mehr |
SLC7A9 (analyzed together with SLC3A1) |
7 mutations in SLC7A9: Gly105Arg, Thr123Met, Phe140Ser, Ala182Thr, 747delG, 244delE, Arg333Trp includes 10 mutations in SLC3A1: Thr216Met, Ser217Arg, Arg365Trp, Arg365Leu, Arg362Cys, Met467Thr, Met467Lys, 1500+1G/T, Glu483X duplication of exons 5-9 |
€ 840,00 |
|
|
CYSTINURIA TYPE 1 mehr |
SLC7A9 (analyzed together with SLC3A1) |
7 mutations in SLC7A9: Gly105Arg, Thr123Met, Phe140Ser, Ala182Thr, 747delG, 244delE, Arg333Trp includes 10 mutations in SLC3A1: Thr216Met, Ser217Arg, Arg365Trp, Arg365Leu, Arg362Cys, Met467Thr, Met467Lys, 1500+1G/T, Glu483X duplication of exons 5-9 |
€ 840,00 |
|
|
CYSTINURIA TYPE 1 mehr |
SLC7A9 (analyzed together with SLC3A1) |
7 mutations in SLC7A9: Gly105Arg, Thr123Met, Phe140Ser, Ala182Thr, 747delG, 244delE, Arg333Trp includes 10 mutations in SLC3A1: Thr216Met, Ser217Arg, Arg365Trp, Arg365Leu, Arg362Cys, Met467Thr, Met467Lys, 1500+1G/T, Glu483X duplication of exons 5-9 |
€ 840,00 |
|
|
CYSTINURIA TYPE 1 mehr |
SLC7A9 (analyzed together with SLC3A1) |
7 mutations in SLC7A9: Gly105Arg, Thr123Met, Phe140Ser, Ala182Thr, 747delG, 244delE, Arg333Trp includes 10 mutations in SLC3A1: Thr216Met, Ser217Arg, Arg365Trp, Arg365Leu, Arg362Cys, Met467Thr, Met467Lys, 1500+1G/T, Glu483X duplication of exons 5-9 |
€ 840,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) |
Sequencing |
€ 720,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10, HEME A:FARNESYLTRANSFERASE) |
Sequencing |
€ 780,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15) |
Sequencing |
€ 1440,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
MTTS1 (TRANSFER RNA, MITOCHONDRIAL, SERINE, 1) |
Sequencing |
€ 1020,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
NDUFS1 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT) |
Sequencing |
€ 1440,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
NDUFS3 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3, NADH-COENZYME Q REDUCTASE, 30-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT) |
Sequencing |
€ 1440,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
NDUFS4 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4, NADH-COENZYME Q REDUCTASE, 18-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT, AQDQ) |
Sequencing |
€ 1440,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
NDUFS7 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7, NADH-COENZYME Q REDUCTASE, 20-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 20-KD SUBUNIT, PSST) |
Sequencing |
€ 1440,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
NDUFS8 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 23-KD SUBUNIT, TYKY) |
Sequencing |
€ 1440,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
NDUFV1 (NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT, UQOR1) |
Sequencing |
€ 1440,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1) |
Sequencing |
€ 1200,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
SCO2 |
Sequencing |
€ 660,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
SDHA (SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN, SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2) |
Sequencing |
€ 1440,00 |
|
|
CYTOCHROME c OXIDASE DEFICIENCY mehr |
SURF1 (SURFEIT 1) |
Sequencing |
€ 720,00 |
|
|
|
|
|
|
|
DARIER-WHITE DISEASE mehr |
ATP2A2 (ATP2B, SERCA2) |
Sequencing |
€ 2640,00 |
|
|
DAZ (DELETED IN AZOOSPERMIA) mehr |
DAZ (DELETED IN AZOOSPERMIA) |
See AZFa, AZFb and AZFc ( |
30 weeks |
€ 0,00 |
|
DEAFNESS mehr |
7472insC |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
961delT/insC |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
A1116G |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
A1555G |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
A7445G |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
A827G |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
All 10 mutations in the MTRNR1 and MTTS1 genes associated with non-syndromic hearing loss : A1555G, 961delT/insC, T961G, T1095C, C1494T, A827G, T1005C, T1291C,T1243C and A1116G |
Sequencing |
€ 720,00 |
|
|
DEAFNESS mehr |
C1494T |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
MTRNR1(RIBOSOMAL RNA, MITOCHONDRIAL, 12S) |
Sequencing |
€ 300,00 |
|
|
DEAFNESS mehr |
T1005C |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
T1095C |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
T1243C |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
T1291C |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
T7511C |
Sequencing |
€ 180,00 |
|
|
DEAFNESS mehr |
T961G |
Sequencing |
€ 180,00 |
|
|
DEAFNESS AND DIABETES mehr |
A3243G |
Sequencing |
€ 180,00 |
|
|
DEAFNESS AND DIABETES mehr |
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
Sequencing |
€ 1020,00 |
|
|
DEAFNESS AND MIGRAINE mehr |
MTTQ (TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE) |
Sequencing |
€ 1020,00 |
|
|
DEAFNESS, AMINOGLYCOSIDE-INDUCED mehr |
MTRNR1(RIBOSOMAL RNA, MITOCHONDRIAL, 12S) |
Sequencing |
€ 300,00 |
|
|
DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION, DFN3 mehr |
POU3F4 (POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4) |
Sequencing |
€ 360,00 |
|
|
DEAFNESS, DFNA12 mehr |
TECTA (TECTORIN, ALPHA) |
Sequencing |
€ 600,00 |
|
|
DEAFNESS, DFNA13 mehr |
COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) |
Sequencing |
€ 3960,00 |
|
|
DEAFNESS, DFNA17 mehr |
MYH9 (MYOSIN, HEAVY CHAIN 9) |
Sequencing |
€ 1680,00 |
|
|
DEAFNESS, DFNA2 mehr |
GJB3 (CONNEXIN 31, CX31) |
Sequencing |
€ 396,00 |
|
|
DEAFNESS, DFNA2 mehr |
KCNQ4 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4) |
Sequencing |
€ 660,00 |
|
|
DEAFNESS, DFNA22 mehr |
MYO6 (MYOSIN 6) |
See also Next Generation Sequencing Platforms (request price) |
€ 0,00 |
|
|
DEAFNESS, DFNA23 (AUTOSOMAL DOMINANT) mehr |
SIX1 |
Sequencing |
€ 600,00 |
|
|
DEAFNESS, DFNA3 mehr |
GJB2 (CONNEXIN 26, CX26) |
Sequencing |
€ 240,00 |
|
|
DEAFNESS, DFNA3 mehr |
GJB6 (CONNEXIN 30, CX30) |
Sequencing |
€ 240,00 |
|
|
DEAFNESS, DFNA36 mehr |
TMC1 (TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1) |
See also Next Generation Sequencing Platforms (request price) |
€ 0,00 |
|
|
DEAFNESS, DFNA53 mehr |
COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) |
Sequencing |
€ 3960,00 |
|
|
DEAFNESS, DFNA6 mehr |
WFS1 (WOLFRAMIN ) |
Sequencing |
€ 480,00 |
|
|
DEAFNESS, DFNA9 mehr |
COCH (COCHLIN) |
1 Mutation: P51S |
€ 180,00 |
|
|
DEAFNESS, DFNA9 mehr |
COCH (COCHLIN) |
Whole Gene |
€ 1140,00 |
|
|
DEAFNESS, DFNB1 mehr |
GJB2 (CONNEXIN 26, CX26) |
Sequencing |
€ 240,00 |
|
|
DEAFNESS, DFNB1 mehr |
GJB6 (CONNEXIN 30, CX30) |
Sequencing |
€ 240,00 |
|
|
DEAFNESS, DFNB18 mehr |
USH1C (HARMONIN) |
See also Next Generation Sequencing Platforms (request price) |
€ 0,00 |
|
|
DEAFNESS, DFNB21 mehr |
TECTA (TECTORIN, ALPHA) |
Sequencing |
€ 600,00 |
|
|
DEAFNESS, DFNB37 mehr |
MYO6 (MYOSIN 6) |
See also Next Generation Sequencing Platforms (request price) |
€ 0,00 |
|
|
DEAFNESS, DFNB4 mehr |
SLC26A4 (PENDRIN) |
Sequencing |
€ 960,00 |
|
|
DEAFNESS, DFNB6 mehr |
TMIE (TRANSMEMBRANE INNER EAR-EXPRESSED GENE) |
See also Next Generation Sequencing Platforms (request price) |
€ 0,00 |
|
|
DEAFNESS, DFNB7 mehr |
TMC1 (TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1) |
See also Next Generation Sequencing Platforms (request price) |
€ 0,00 |
|
|
DEAFNESS, DFNB9 mehr |
OTOF (OTOFERLIN) |
Sequencing |
€ 1800,00 |
|
|
DEAFNESS, KID SYNDROME, BART-PUMPHREY SYNDROME mehr |
GJB2, GJB3, GJB6, GJA1, SLC26A4, SLC26A5, and Mitochondrial DNA |
DEAFNESS CHIP 200 positions |
€ 720,00 |
|
|
Deafness, neurosensory, autosomal recessive(DFNB1) mehr |
GJB2 |
Sequencing; deletions |
2 Weeks |
€ 385,00 |
|
Deafness, neurosensory, autosomal recessive(DFNB1) mehr |
GJB6 |
Sequencing; deletions |
2 Weeks |
€ 440,00 |
|
Deafness, nonsyndromic sensorineural autoso mehr |
GJB2 |
Detection of the 35delG mutation in the GJB2 gene (Connexin 26) |
3 Weeks |
€ 192,00 |
|
DEEP VENOUS TROMBOSIS mehr |
ANGIOTENSIN CONVERTING ENZYME (ACE) |
Ins/del |
€ 120,00 |
|
|
DEEP VENOUS TROMBOSIS mehr |
ANTITHROMBOTIC PANEL (FACTOR 5, FACTOR 2, MTHFR) |
4 Mutations: G1691A, G20210A, C677T, A1298C |
€ 300,00 |
|
|
DEEP VENOUS TROMBOSIS mehr |
METHYLENE TETRA HYDRO FOLATE REDUCTASE (MTHFR) |
A1298C |
€ 120,00 |
|
|
DEEP VENOUS TROMBOSIS mehr |
METHYLENE TETRA HYDRO FOLATE REDUCTASE (MTHFR) |
C677T |
€ 120,00 |
|
|
DEEP VENOUS TROMBOSIS mehr |
PLASMINOGEN ACTIVATOR INHIBITOR (PAI1) |
Del/Ins, 4G/5G |
€ 120,00 |
|
|
Dejerine-Sottas syndrome mehr |
PMP22 |
Complete sequencing of the PMP22 gene |
8 weeks |
€ 249,00 |
|
Dejerine-Sottas syndrome mehr |
MPZ |
Complete sequencing of the MPZ gene |
8 weeks |
€ 524,00 |
|
DEND-syndrome mehr |
KCNJ11-gene |
1-2 Weeks |
€ 605,00 |
|
|
Dent disease mehr |
OCRL1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 960,00 |
|
Dent disease mehr |
OCRL1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Dent disease mehr |
CLCN5 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 770,00 |
|
Dent disease mehr |
CLCN5 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Dentatorubral-pallidoluysian atrophy mehr |
DRPLA |
Expansion detection in DRPLA gene |
3-4 weeks |
€ 216,00 |
|
Denys- Drash syndrome mehr |
WT1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 440,00 |
|
Denys- Drash syndrome mehr |
WT1 |
Multiplex Ligation-Dependent Probe Amplification (all 10 WT1 exons) |
2-4 Weeks |
€ 385,00 |
|
Denys- Drash syndrome mehr |
WT1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
DENYS-DRASH SYNDROME mehr |
WT1 (WILMS TUMOR 1 GENE) |
Deletion-Duplication |
€ 480,00 |
|
|
Diabetes mehr |
KCNJ11 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
Diabetes mehr |
KCNJ11 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Diabetes mehr |
PPARG |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 440,00 |
|
DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS mehr |
INSR (INSULIN RECEPTOR) |
Sequencing |
€ 2880,00 |
|
|
DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM mehr |
NEUROD1 (BETA2) |
Sequencing |
€ 480,00 |
|
|
DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM mehr |
PPARG (PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, PPARG1, PPARG2, PPARG3,
PAX8/PPARG FUSION GENE) |
2 Mutations: P12A and P115Q |
€ 300,00 |
|
|
DIABETES MELLITUS, PERMANENT NEONATAL mehr |
ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1) |
Sequencing |
€ 1680,00 |
|
|
Diabetic nephropathy mehr |
ACE |
Fragment analysis |
2-4 Weeks |
€ 80,00 |
|
DIAMOND-BLACKFAN ANEMIA, DBA mehr |
RPS19 |
Sequencing |
€ 564,00 |
|
|
Diastrophic dysplasia mehr |
SLC26A2 |
Sequencing |
3 Weeks |
€ 720,00 |
|
DIEGO BLOOD GROUP ANTIGEN mehr |
SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) |
Sequencing |
€ 1200,00 |
|
|
DIFFERENT DISEASES mehr |
FGFR2 |
Whole Gene |
€ 780,00 |
|
|
DIFFERENT DISEASES mehr |
FGFR3 |
Whole Gene |
€ 1560,00 |
|
|
Diffuse gastric cancer mehr |
CDH1 |
Complete sequencing of the CDH1 gene |
10 weeks |
€ 693,00 |
|
DiGeorge syndrome Velocardialfacial syndrome (VCFS) mehr |
22q11.2andotherregions |
Deletions (MLPA*) |
1 Week |
€ 180,00 |
|
DIGEORGE SYNDROME, DGS mehr |
TBX1 (T-BOX 1) |
Sequencing |
€ 1500,00 |
|
|
DIGEORGE, DGS mehr |
10p13 - p14 deletion |
Sequencing |
€ 480,00 |
|
|
Dihydroxyadenin urolithiasis mehr |
APRT |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
Dihydroxyadenin urolithiasis mehr |
APRT |
Carrier testing |
2 Weeks |
€ 180,00 |
|
DILATED CARDIOMIOPATHY (DCM) mehr |
Myosin heavy chain (MYH7), Troponin T (TNNT2), Myosin-binding protein C (MYBPC3), Troponin I (TNNI3), Tropomyosin 1 (TPM1), Actin (ACTC), Lamin A/C (LMNA), Z-band alternatively spliced PDZ motif-containing protein (ZASP), Tafazzin (TAZ), Phospholamban (PL |
23 DCM genes |
€ 3360,00 |
|
|
DILATED CARDIOMYOPATHY mehr |
ACTC1 (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH MUSCLE ACTIN) |
See also ACTC1, MYL2 and MYL3 |
€ 660,00 |
|
|
Dilated Cardiomyopathy mehr |
Sequencing of 30 genes: LMNA, LDB3, TNNT2, SCN5A, TTN, TCAP, ABCC9, PLN, ACTC1, MYH7, TMPO, PSEN1, PSEN2, VCL, FKTN, TPM1, TNNC1, ACTN2, DSG2, NEXN, RBM20, MYH6, TNNI3, TAZ, DTNA, MYBPC3, DES, SGCD, SCRP3, EYA4 |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 2900,00 |
|
DILATED CARDIOMYOPATHY (X-LINKED) mehr |
DMD (DYSTROPHIN) |
Deletions-Duplications (MLPA) |
€ 600,00 |
|
|
DILATED CARDIOMYOPATHY (X-LINKED) mehr |
DMD (DYSTROPHIN) |
Whole Gene |
€ 2220,00 |
|
|
DILATED CARDIOMYOPATHY WITH CARDIAC CONDUCTION DEFECTS, CMD1A mehr |
LMNA (LAMIN A/C) |
Sequencing |
€ 840,00 |
|
|
DILATED CARDIOMYOPATHY, 1D, CMD1D mehr |
TNNT2 (TROPONIN T2, CARDIAC) |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
€ 720,00 |
|
|
DILATED CARDIOMYOPATHY, 1L, CMD1L mehr |
SGCD (SARCOGLYCAN DELTA) |
Sequencing |
€ 720,00 |
|
|
Disturbances of vitamin K metabolism mehr |
GGCX |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 825,00 |
|
Disturbances of vitamin K metabolism mehr |
GGCX |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Disturbances of vitamin K metabolism mehr |
VKORC1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 230,00 |
|
Disturbances of vitamin K metabolism mehr |
VKORC1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
DLL3 mehr |
DLL3 |
Sequencing |
€ 960,00 |
|
|
DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL mehr |
DBH (DOPAMINE BETA-HYDROXYLASE, PLASMA; DOPAMINE BETA-MONOOXYGENASE) |
Sequencing |
€ 1800,00 |
|
|
DOUBLE CORTEX SYNDROME mehr |
DCX (DOUBLECORTIN) |
Deletions - Duplications |
€ 360,00 |
|
|
DOUBLE CORTEX SYNDROME mehr |
DCX (DOUBLECORTIN) |
Whole Gene Sequencing |
€ 900,00 |
|
|
DOWN SYNDROME mehr |
Chromosome 21 |
Sequencing |
€ 480,00 |
|
|
DOYNE HONEYCOMB RETINAL DYSTROPHY mehr |
EFEMP1 (EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1, FIBULIN 3, FIBRILLIN-LIKE) |
R345W Mutation |
€ 300,00 |
|
|
DOYNE HONEYCOMB RETINAL DYSTROPHY mehr |
EFEMP1 (EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1, FIBULIN 3, FIBRILLIN-LIKE) |
Whole Gene Sequencing |
€ 960,00 |
|
|
Dravet syndrome mehr |
SCN1A |
Mutation scanning (DGGE), sequencing |
6 Weeks |
€ 1650,00 |
|
DUANE-RADIAL RAY SYNDROME mehr |
SALL4 (SAL-LIKE 4) |
Deletions |
€ 420,00 |
|
|
DUANE-RADIAL RAY SYNDROME mehr |
SALL4 (SAL-LIKE 4) |
Whole Gene |
€ 1440,00 |
|
|
DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1 mehr |
SGCG (SARCOGLYCAN GAMMA, ADHALIN) |
Sequencing |
€ 480,00 |
|
|
DYGGVE-MELCHIOR-CLAUSEN DISEASE mehr |
DYM (DYMECLIN) |
Sequencing |
€ 960,00 |
|
|
DYM (DYMECLIN) mehr |
DYM (DYMECLIN) |
Sequencing |
€ 960,00 |
|
|
DYSAUTONOMIA, FAMILIAL, DYS mehr |
IKBKAP (IKK COMPLEX-ASSOCIATED PROTEIN, IKAP) |
See also Molecular Screening Tests Table |
€ 180,00 |
|
|
DYSAUTONOMIA, FAMILIAL, DYS mehr |
IKBKAP (IKK COMPLEX-ASSOCIATED PROTEIN, IKAP) |
See also Molecular Screening Tests Table |
€ 2880,00 |
|
|
DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E mehr |
APOE (APOLIPOPROTEIN E) |
Sequencing |
€ 360,00 |
|
|
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA mehr |
GATA1 (GATA-BINDING PROTEIN 1; ERYTHROID TRANSCRIPTION FACTOR 1, GLOBIN TRANSCRIPTION FACTOR 1) |
Sequencing |
€ 1440,00 |
|
|
Dysfibrinogenemia mehr |
FGA |
Sequencing |
4 Weeks |
€ 935,00 |
|
Dysfibrinogenemia mehr |
FGB |
Sequencing |
4 Weeks |
€ 935,00 |
|
Dysfibrinogenemia mehr |
FGG |
Sequencing |
4 Weeks |
€ 935,00 |
|
DYSKERATOSIS CONGENITA (AUTOSOMAL DOMINANT) mehr |
TERC (TELOMERASE RNA COMPONENT) |
Sequencing |
€ 480,00 |
|
|
DYSKERATOSIS CONGENITA (X-LINKED), DKC mehr |
DKC1 (DYSKERIN) |
Sequencing |
€ 2100,00 |
|
|
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE mehr |
HSPG2 (PERLECAN, HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE) |
Sequencing |
€ 5280,00 |
|
|
DYSTONIA MUSCULORUM DEFORMANS mehr |
DYT1 (TOR1A, TORSIN A) |
GAG deletion |
€ 300,00 |
|
|
DYSTONIA MUSCULORUM DEFORMANS mehr |
DYT1 (TOR1A, TORSIN A) |
Whole Gene |
€ 792,00 |
|
|
DYSTONIA, ADULT-ONSET mehr |
MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1) |
Sequencing |
€ 1320,00 |
|
|
Dystonia, dopa-responsive (Segawa syndrome, DRD) mehr |
GCH1 |
Sequencing; deletions (MLPA*) |
3 Weeks |
€ 825,00 |
|
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY mehr |
SPR (SEPIAPTERIN REDUCTASE) |
Sequencing |
€ 420,00 |
|
|
DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES mehr |
MTND4 (COMPLEX 1, SUBUNIT ND4, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4NADH DEHYDROGENASE, SUBUNIT 4) |
Sequencing |
€ 1320,00 |
|
|
DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES mehr |
MTND6 (COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6NADH DEHYDROGENASE, SUBUNIT 6) |
Sequencing |
€ 1320,00 |
|
|
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION mehr |
GCH1 (GTP CYCLOHYDROLASE 1) |
Sequencing |
€ 660,00 |
|
|
Dystrophia myotonica I mehr |
DMPK |
Fragment analysis |
2 Weeks |
€ 130,00 |
|
Dystrophic epidermolysis bulbosa mehr |
COL7A1 |
Sequencing of exons 73, 74 and 75 of the COL7A1 gene |
3 weeks |
€ 468,00 |
|
|
|
|
|
|
|
Early- onset nephrotic syndrome with diffuse mesangial sclerosis mehr |
WT1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 440,00 |
|
Early- onset nephrotic syndrome with diffuse mesangial sclerosis mehr |
WT1 |
Multiplex Ligation-Dependent Probe Amplification (all 10 WT1 exons.) |
2-4 Weeks |
€ 385,00 |
|
Early- onset nephrotic syndrome with diffuse mesangial sclerosis mehr |
WT1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Ectodermal dysplasia 3, anhidrotic(ED3) mehr |
EDAR |
Sequencing |
3 Weeks |
€ 990,00 |
|
Ectodermal dysplasia, anhidrotic mehr |
EDARADD |
Sequencing |
4 Weeks |
€ 605,00 |
|
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Deletion-Duplication |
€ 720,00 |
|
|
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Whole Gene |
€ 1350,00 |
|
|
Ectodermal dysplasia, X-linked(ED1) mehr |
ED1 |
Sequencing |
3 Weeks |
€ 990,00 |
|
ECTOPIA LENTIS mehr |
FBN1 (FIBRILLIN 1) |
Deletions-Duplications |
€ 480,00 |
|
|
ECTOPIA LENTIS mehr |
FBN1 (FIBRILLIN 1) |
Whole Gene |
€ 1350,00 |
|
|
ECTOPIA PUPILLAE mehr |
PAX6 (PAIRED BOX GENE 6) |
Whole Gene and Deletion Analysis (MLPA) |
€ 1320,00 |
|
|
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/P mehr |
TP73L |
Screening of the R204, R227, R279, R280 and R304 mutations in the TP73L gene |
€ 518,00 |
|
|
ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1, EEC1 mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Deletion-Duplication |
€ 720,00 |
|
|
ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1, EEC1 mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Whole Gene |
€ 1800,00 |
|
|
ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3, EEC3 mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Deletion-Duplication |
€ 720,00 |
|
|
ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3, EEC3 mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Whole Gene |
€ 1800,00 |
|
|
EDWARDS SYNDROME mehr |
Chromosome 18 |
Sequencing |
€ 480,00 |
|
|
EHLERS - DANLOS TYPE 1, EDS 1 mehr |
COL5A1 and COL5A2 |
Null Allele Detection |
€ 420,00 |
|
|
EHLERS - DANLOS TYPE 1, EDS 1 mehr |
COL5A1 and COL5A2 |
Biochemical Test |
€ 720,00 |
|
|
EHLERS - DANLOS TYPE 1, EDS 1 mehr |
COL5A1 and COL5A2 |
Whole Gene Analysis |
€ 1080,00 |
|
|
EHLERS - DANLOS TYPE 2, EDS 2 mehr |
COL5A1 and COL5A2 |
Null Allele Detection |
€ 420,00 |
|
|
EHLERS - DANLOS TYPE 2, EDS 2 mehr |
COL5A1 and COL5A2 |
Biochemical Test |
€ 720,00 |
|
|
EHLERS - DANLOS TYPE 2, EDS 2 mehr |
COL5A1 and COL5A2 |
Whole Gene Analysis |
€ 1080,00 |
|
|
EHLERS -DANLOS TYPE 1, EDS1 mehr |
COL1A1 |
See COL1A1 and COL1A2 ( |
€ 0,00 |
|
|
EHLERS -DANLOS TYPE 1, EDS1 mehr |
COL1A1 and COL1A2 |
Biochemical Test |
€ 720,00 |
|
|
EHLERS -DANLOS TYPE 1, EDS1 mehr |
COL1A1 and COL1A2 |
Whole Gene |
€ 1440,00 |
|
|
EHLERS -DANLOS TYPE 4, EDS 4 mehr |
COL3A1 |
Null Allele Detection |
€ 420,00 |
|
|
EHLERS -DANLOS TYPE 4, EDS 4 mehr |
COL3A1 |
Biochemical Test |
€ 720,00 |
|
|
Ehlers-Danlos syndrome, type IV (vascular) mehr |
COL3A1 |
Complete sequencing of COL3A1 gene |
8 weeks |
€ 851,00 |
|
Ehlers-Danlos syndrome, type IV (vascular) ** mehr |
COL3A1 |
Biochemical fibroblast study - **with limited informative value |
3 months |
€ 946,00 |
|
EHLERS-DANLOS TYPE 6, EDS 6 mehr |
PLOD1 (PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; LYSYL HYDROXYLASE) |
Duplication Exons 10-16 |
€ 420,00 |
|
|
EHLERS-DANLOS TYPE 6, EDS 6 mehr |
PLOD1 (PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; LYSYL HYDROXYLASE) |
Whole Gene Sequencing |
€ 2760,00 |
|
|
EHLERS-DANLOS TYPE 7 , DOMINANT, EDS7 mehr |
COL1A1 and COL1A2 |
Splice Site Mutations Exons 5, 6 and 7 |
€ 750,00 |
|
|
ELLIS-VAN CREVELD SYNDROME mehr |
EVC |
Sequencing |
€ 480,00 |
|
|
ELLIS-VAN CREVELD SYNDROME mehr |
EVC2 |
Sequencing |
€ 480,00 |
|
|
Emery-Dreifuss muscular dystrophy (EMD2, EMD3) mehr |
LMNA |
Sequencing |
4 Weeks |
€ 630,00 |
|
EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD mehr |
EMERIN (EMD) |
Sequencing |
€ 600,00 |
|
|
EMERY?DREYFUSS MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE ), EDMD3 mehr |
LMNA (LAMIN A/C) |
Sequencing |
€ 840,00 |
|
|
ENCEPHALOMYOPATHY mehr |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
Sequencing |
€ 576,00 |
|
|
ENCEPHALOMYOPATHY mehr |
MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Sequencing |
€ 1020,00 |
|
|
ENCEPHALOMYOPATHY mehr |
MTTL2 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2) |
Sequencing |
€ 1020,00 |
|
|
ENCEPHALOMYOPATHY mehr |
MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN) |
Sequencing |
€ 1020,00 |
|
|
ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING mehr |
MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE) |
Sequencing |
€ 1020,00 |
|
|
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY mehr |
COLQ (COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; ACETYLCHOLINESTERASE-ASSOCIATED COLLAGEN) |
Sequencing |
€ 1260,00 |
|
|
ENLARGED VESTIBULAR AQUEDUCT SYNDROME, EVA mehr |
SLC26A4 (PENDRIN) |
Sequencing |
€ 960,00 |
|
|
EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT) mehr |
COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) |
Sequencing |
€ 4200,00 |
|
|
EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE) mehr |
COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) |
Sequencing |
€ 4200,00 |
|
|
EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE mehr |
COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) |
Sequencing |
€ 4200,00 |
|
|
EPIDERMOLYSIS BULLOSA LETALIS mehr |
LAMA3 (LAMININ, ALPHA-3) |
See also LAMA3, LAMB3 and LAMC2 |
€ 3000,00 |
|
|
EPIDERMOLYSIS BULLOSA LETALIS mehr |
LAMA3, LAMB3 and LAMC2 |
6 Common Mutations in 3 Genes: LAMA3: R650X - LAMB3: R42X, Q243X, R635X, 77 BP Deletion - LAMC2: R95X |
€ 720,00 |
|
|
EPIDERMOLYSIS BULLOSA LETALIS mehr |
LAMB3 (LAMININ, BETA-3) |
See also LAMA3, LAMB3 and LAMC2 |
€ 1800,00 |
|
|
EPIDERMOLYSIS BULLOSA LETALIS mehr |
LAMC2 (LAMININ, GAMMA-2) |
See also LAMA3, LAMB3 and LAMC2 |
€ 1800,00 |
|
|
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET mehr |
ITGB4 (INTEGRIN, BETA-4) |
Sequencing |
€ 3000,00 |
|
|
EPIDERMOLYSIS BULLOSA PRURIGINOSA (AUTOSOMAL DOMINANT AND RECESSIVE) mehr |
COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) |
Sequencing |
€ 4200,00 |
|
|
EPIDERMOLYSIS BULLOSA SIMPLEX (DOWLING-MEARA TYPE) mehr |
KRT14 (KERATIN 14) |
Whole Gene |
€ 1200,00 |
|
|
EPIDERMOLYSIS BULLOSA SIMPLEX (DOWLING-MEARA TYPE) mehr |
KRT5 and KRT14 (KERATIN 5 and KERATIN 14) |
Hotspots |
€ 960,00 |
|
|
EPIDERMOLYSIS BULLOSA SIMPLEX (KOEBNER TYPE) mehr |
KRT14 (KERATIN 14) |
Whole Gene |
€ 1200,00 |
|
|
EPIDERMOLYSIS BULLOSA SIMPLEX (KOEBNER TYPE) mehr |
KRT5 and KRT14 (KERATIN 5 and KERATIN 14) |
Hotspots |
€ 960,00 |
|
|
EPIDERMOLYSIS BULLOSA SIMPLEX (KOEBNER TYPE) mehr |
KRT5 (KERATIN 5) |
Whole Gene |
€ 1200,00 |
|
|
EPIDERMOLYSIS BULLOSA SIMPLEX (WEBER-COCKAYNE TYPE) mehr |
KRT14 (KERATIN 14) |
Whole Gene |
€ 1200,00 |
|
|
EPIDERMOLYSIS BULLOSA SIMPLEX (WEBER-COCKAYNE TYPE) mehr |
KRT5 and KRT14 (KERATIN 5 and KERATIN 14) |
Hotspots |
€ 960,00 |
|
|
EPIDERMOLYSIS BULLOSA SIMPLEX (WEBER-COCKAYNE TYPE) mehr |
KRT5 (KERATIN 5) |
Whole Gene |
€ 1200,00 |
|
|
Epidermolysis bullosa simplex with muscular dystrophy mehr |
PLEC1 |
Mutation scanning in the exon 32 of the PLEC1 gene |
6 weeks |
€ 860,00 |
|
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE mehr |
PLEC1 (PLECTIN 1) |
Sequencing of the entire gene |
50 days |
€ 2370,00 |
|
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS mehr |
COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) |
Sequencing |
€ 4200,00 |
|
|
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA mehr |
ITGA6 (INTEGRIN, ALPHA-6) |
Sequencing |
€ 1800,00 |
|
|
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA mehr |
ITGB4 (INTEGRIN, BETA-4) |
Sequencing |
€ 3000,00 |
|
|
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN mehr |
COL17A1 (COLLAGEN, TYPE 17, ALPHA-1) |
Sequencing |
€ 3000,00 |
|
|
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN mehr |
ITGB4 (INTEGRIN, BETA-4) |
Sequencing |
€ 3000,00 |
|
|
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN mehr |
LAMA3 (LAMININ, ALPHA-3) |
See also LAMA3, LAMB3 and LAMC2 |
€ 3000,00 |
|
|
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN mehr |
LAMA3, LAMB3 and LAMC2 |
6 Common Mutations in 3 Genes: LAMA3: R650X - LAMB3: R42X, Q243X, R635X, 77 BP Deletion - LAMC2: R95X |
€ 720,00 |
|
|
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN mehr |
LAMB3 (LAMININ, BETA-3) |
See also LAMA3, LAMB3 and LAMC2 |
€ 1800,00 |
|
|
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN mehr |
LAMC2 (LAMININ, GAMMA-2) |
See also LAMA3, LAMB3 and LAMC2 |
€ 1800,00 |
|
|
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC mehr |
DSP (DESMOPLAKIN) |
See also PKP2, DSP, DSG2, DSC2 PANEL |
€ 600,00 |
|
|
EPIDERMOLYSIS BULLOSA, PRETIBIAL mehr |
COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) |
Sequencing |
€ 4200,00 |
|
|
EPIDERMOLYTIC PALMOPLANTAR KERATODERMA mehr |
KRT9 (KERATIN 9) |
Hotspots |
€ 480,00 |
|
|
EPIDERMOLYTIC PALMOPLANTAR KERATODERMA mehr |
KRT9 (KERATIN 9) |
Whole Gene |
€ 1200,00 |
|
|
Epilepsy, benign neonatal, 1 (EBN1) mehr |
KCNQ2 |
Sequencing |
3 Weeks |
€ 1650,00 |
|
EPILEPSY, BENIGN NEONATAL, 2; EBN2 mehr |
KCNQ3 |
Sequencing |
4 Weeks |
€ 1540,00 |
|
EPILEPSY, BENIGN NEONATAL, TYPE 1 mehr |
KCNQ2 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2) |
Whole Gene and MLPA |
€ 1800,00 |
|
|
EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1 mehr |
GABRG2 |
Sequencing |
4 Weeks |
€ 935,00 |
|
EPILEPSY, CHILDHOOD ABSENCE, 1; ECA1 mehr |
CLCN2 |
Sequencing |
4 Weeks |
€ 2280,00 |
|
Epilepsy, generalized with febrile seizures plus (GEFS+), type 1 mehr |
SCN1B |
Sequencing |
2-3 Weeks |
€ 550,00 |
|
Epilepsy, generalized with febrile seizures plus (GEFS+), type 2 mehr |
SCN1A |
Mutation scanning (DGGE), sequencing |
6 Weeks |
€ 1650,00 |
|
Epilepsy, generalized with febrile seizures plus (GEFS+), type 3 mehr |
GABRA2 |
Sequencing |
4 Weeks |
€ 935,00 |
|
EPILEPSY, JUVENILE ABSENCE mehr |
CLCN2 |
Sequencing |
€ 2280,00 |
|
|
EPILEPSY, JUVENILE MYOCLONIC, JME mehr |
CLCN2 |
Sequencing |
€ 2280,00 |
|
|
EPILEPSY, JUVENILE MYOCLONIC; JME mehr |
CACNB4 |
Sequencing |
4 Weeks |
€ 1100,00 |
|
EPILEPSY, JUVENILE MYOCLONIC; JME mehr |
GABRA1 |
Sequencing |
4 Weeks |
€ 990,00 |
|
EPILEPSY, JUVENILE MYOCLONIC; JME mehr |
CLCN2 |
Sequencing |
4 Weeks |
€ 2200,00 |
|
EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT; ADLTE mehr |
LGI1 |
Sequencing |
4 Weeks |
€ 715,00 |
|
Epilepsy, nocturnal frontal lobe, type 1 mehr |
CHRNA4 |
Sequencing |
3 Weeks |
€ 990,00 |
|
Epilepsy, nocturnal frontal lobe, type 2 mehr |
CHRNA4 |
Sequencing |
3 Weeks |
€ 990,00 |
|
Epilepsy, nocturnal frontal lobe, type 3 mehr |
CHRNB2 |
Sequencing |
4 Weeks |
€ 935,00 |
|
Epilepsy, nocturnal frontal lobe, type 4 mehr |
CHRNA2 |
Sequencing |
3 Weeks |
€ 880,00 |
|
EPILEPSY, PROGRESSIVE MYOCLONUS mehr |
CSTB (CYSTATIN B, STEFIN B) |
Repeat |
€ 480,00 |
|
|
EPILEPSY, PYRIDOXINE-DEPENDENT, EPD mehr |
ALDH7A1 (ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ANTIQUITIN; ALPHA AMINO-ADIPIC SEMIALDEHYDE DEHYDROGENASE) |
Sequencing |
€ 1440,00 |
|
|
Epiphyseal dysplasia, multiple, 1 (EDM1) mehr |
COMP |
Sequencing |
3-4 Weeks |
€ 1650,00 |
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, TYPE 4, EDM4 mehr |
SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) |
Sequencing |
€ 720,00 |
|
|
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS mehr |
EIF2AK3 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3) |
Sequencing |
€ 1800,00 |
|
|
Episodic Ataxia (EA2) mehr |
CACNA1A |
Sequencing |
6 Weeks |
€ 1440,00 |
|
Episodic Ataxia(EA1) mehr |
KCNA1 |
Sequencing |
3 Weeks |
€ 385,00 |
|
Episodic Ataxia(EA2) mehr |
CACNA1A |
Repeat expansion detection |
3 Weeks |
€ 130,00 |
|
Epstein syndrome mehr |
MYH9 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Epstein syndrome mehr |
MYH9 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
ERYTHERMALGIA, PRIMARY mehr |
SCN9A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT) |
Sequencing |
€ 1080,00 |
|
|
ERYTHROKERATODERMIA VARIABILIS, EKV mehr |
GJB3 (CONNEXIN 31, CX31) |
Sequencing |
€ 396,00 |
|
|
ERYTHROKERATODERMIA VARIABILIS, EKV mehr |
GJB4 (CONNEXIN 30.3, CX30.3) |
Sequencing |
€ 540,00 |
|
|
ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC mehr |
LOR (LORICRIN) |
Sequencing |
€ 396,00 |
|
|
ESCOBAR SYNDROME mehr |
CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE) |
Sequencing |
€ 1680,00 |
|
|
ESSENTIAL THROMBOCYTHEMIA mehr |
V617F Mutation in JAK2 |
Diagnostic |
€ 360,00 |
|
|
EWING SARCOMA DESMOPLASTIC ROUND CELL TUMOR mehr |
EWSR1 |
t(22,?) |
€ 480,00 |
|
|
EXERCISE INTOLERANCE mehr |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
Sequencing |
€ 1020,00 |
|
|
EXERCISE INTOLERANCE mehr |
MTTG (TRANSFER RNA, MITOCHONDRIAL, GLYCINE) |
Sequencing |
€ 1020,00 |
|
|
EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA mehr |
MTTY (TRANSFER RNA, MITOCHONDRIAL, TYROSINE) |
Sequencing |
€ 576,00 |
|
|
Exostoses mehr |
EXT1 and EXT2 |
Deletion and duplication screening of EXT1 and EXT2 with MLPA |
4-6 weeks |
€ 2283,00 |
|
Exostoses (multiple hereditary) mehr |
EXT1 |
Complete sequencing of the EXT1 gene |
4-6 weeks |
€ 756,00 |
|
Exostoses (multiple hereditary) mehr |
EXT2 |
Complete sequencing of the EXT2 gene |
4-6 weeks |
€ 720,00 |
|
EXTRASKELETAAL MYXOID CHONDROSARCOMA mehr |
EWS / CHN |
t(9;22) |
€ 480,00 |
|
|
EXUDATIVE VITREORETINOPATHY 1 mehr |
FZD4 |
Sequencing |
4 Weeks |
€ 440,00 |
|
|
|
|
|
|
|
Fabry disease mehr |
GLA |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 385,00 |
|
Fabry disease mehr |
GLA |
Multiplex Ligation-Dependent Probe Amplification; each exon of theGLA gene |
2-4 Weeks |
€ 385,00 |
|
Fabry disease mehr |
GLA |
Carrier testing |
2 Weeks |
€ 180,00 |
|
FABRY DISEASE mehr |
GLA (GALACTOSIDASE) |
Deletion-Duplication |
€ 420,00 |
|
|
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD mehr |
FSHD |
Repeat |
€ 480,00 |
|
|
Factor 10 deficiency mehr |
F10 |
Sequencing |
4 Weeks |
€ 770,00 |
|
Factor 2 deficiency mehr |
F2 |
Sequencing |
4 Weeks |
€ 2200,00 |
|
Factor 5 deficiency mehr |
F5 |
Sequencing |
4 Weeks |
€ 1100,00 |
|
Factor II mehr |
Prothrombin;F2-gene |
20210 G>A polymorphism in the promotor of the F2-gene |
1-2 Days |
€ 90,00 |
|
Factor II deficiency mehr |
F2 |
Snapshot |
1 Week |
€ 130,00 |
|
Factor VII deficiency mehr |
F7 |
Sequencing |
3 Weeks |
€ 990,00 |
|
Familial adenomatous polyposis coli (FAP) mehr |
APC-gene |
Sequencing |
3-4 Weeks |
€ 628,00 |
|
Familial adenomatous polyposis coli (FAP) mehr |
APC-gene |
MLPA analysis |
3-4 Weeks |
€ 363,00 |
|
Familial adenomatous polyposis coli (FAP) mehr |
MUTYH-gene |
Sequencing analysis for two common mutations |
1-2 Weeks |
€ 330,00 |
|
FAMILIAL AORTIC ANEURYSM mehr |
FBN1 (FIBRILLIN 1) |
Deletions-Duplications |
€ 480,00 |
|
|
FAMILIAL AORTIC ANEURYSM mehr |
FBN1 (FIBRILLIN 1) |
Whole Gene |
€ 1350,00 |
|
|
FAMILIAL AORTOPATHIES mehr |
FBN1 gene encoding fibrillin 1 for Marfan syndrome, MASS (mitral valve, aorta, skeleton, and skin) syndrome, isolated ectopia lentis, Weill-Marchesani syndrome, and Shprintzen-Goldberg syndrome, TGFBR1 gene encoding transforming growth factor-beta recepto |
6 genes |
€ 1800,00 |
|
|
FAMILIAL ARRHYTHMIA mehr |
ANK2 encoding Ankyrin-B, CACNA1C encoding Calcium channel, L type, alpha 1, CACNB2 encoding Calcium channel, voltage-dependent, beta 2, CASQ2 encoding Calsequestrin, CAV3 encoding Caveolin 3, DSC2 encoding Desmocollin-2, DSG2 encoding Desmoglein-2, DSP en |
24 genes, This platform is directly sequencing single DNA molecules with the Helicos' True Single Molecule Sequencing (tSMS)? technology.
The platform detects mutations in: > 75% of Long QT syndrome ? Brugada syndrome, > 50% Arrhythmogenic Right Ventricu |
€ 2400,00 |
|
|
Familial Arrhythmia mehr |
Sequencing of 29 genes: AKAP9, ANK2, CACNA1C, CACNB2, CASQ2, CAV3, DSC2, DSG2, DSP, GPD1L, JUP, KCNA5, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, NPPA, PKP2, PLN, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TGFB3, TMEM43 |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 2900,00 |
|
FAMILIAL CARDIOMYOPATHY mehr |
ABCC9 gene encoding ATP-binding cassette, subfamily c, member 9, ACTC1 gene encoding cardiac actin, ACTN2 gene encoding actinin, alpha-2, ALMS1 gene encoding Alstrom syndrome protein, APOA1 gene encoding apolipoprotein A1, CAV3 gene encoding caveolin 3, C |
57 genes, This platform is directly sequencing single DNA molecules with the Helicos' True Single Molecule Sequencing (tSMS)? technology.
The platform detects mutations in: > 65% of Hypertrophic Cardiomyopathy (HCM), > 40% of Dilated Cardiomyopathy (DCM), |
€ 3360,00 |
|
|
Familial Cardiomyopathy mehr |
Sequencing of 40 genes: MYH7,TNNT2, TPM1, MYBPC3, PRKAG2, TNNI3, MYL3, TTN, MYL2, ACTC1, CSRP3, TNNC1, MYH6, VCL, CAV3, SLC25A4, TCAP, MIOZ2, MYLK2, LDB3, ACTN2, PLN, JPH2, LMNA, SCN5A, ABCC9, ACTC1, MYH7, TMPO, PSEN1, PSEN2, FKTN, DSG2, NEXN, RBM20 |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 2900,00 |
|
FAMILIAL HYPERCHOLESTEROLEMIA mehr |
LDLR gene encoding low density lipoprotein receptor for Familial hypercholesterolemia type 2A, APOB gene encoding apolipoprotein B for ligand-defective apolipoprotein B-100 hypercholesterolemia and familial hypobetalipoproteinemia, ABCA1 gene encoding ATP |
7 genes |
€ 1800,00 |
|
|
Familial Hypokalaemic Periodic Paralysis mehr |
Detection of mutations R528H, R528G, R1239H and R1239G on the CACNA1S gene |
3 Weeks |
€ 432,00 |
|
|
FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY, HNFJ mehr |
UMOD (UROMODULIN) |
Sequencing |
€ 840,00 |
|
|
FAMILIAL MEDITERRANEAN FEVER, FMF mehr |
MEFV |
Exons 2, 3, 5, 10 |
€ 420,00 |
|
|
Familial melanoma mehr |
CDKN2A |
Complete sequencing of CDKN2A (p16) gene |
5 weeks |
€ 342,00 |
|
Familial paraganglioma mehr |
SDHD |
Complete sequencing of SDHD gene |
5 weeks |
€ 424,00 |
|
Familial paraganglioma mehr |
SDHB |
Complete sequencing of SDHB gene |
5-8 weeks |
€ 630,00 |
|
FAMILIAL PARAPLEGIC MIGRAINE TYPE 2 mehr |
ATP1A2 |
2 Mutations: L764P and W887R |
€ 360,00 |
|
|
FAMILIAL PARAPLEGIC MIGRAINE TYPE 2 mehr |
ATP1A2 |
Whole Gene |
€ 960,00 |
|
|
FAMILIAL SPASTIC PARAPLEGIA 1 (X-LINKED), SPG1 mehr |
L1 (L1CAM) |
Sequencing |
€ 1080,00 |
|
|
FAMILIAL SPASTIC PARAPLEGIA 10 (AUTOSOMAL DOMINANT), SPG10 mehr |
KIF5A (KINESIN FAMILY MEMBER 5A) |
Whole Gene |
€ 1200,00 |
|
|
FAMILIAL SPASTIC PARAPLEGIA 11 (AUTOSOMAL RECESSIVE), SPG11 mehr |
KIAA1840 (SPATACSIN) |
Sequencing |
€ 3600,00 |
|
|
FAMILIAL SPASTIC PARAPLEGIA 15 (AUTOSOMAL RECESSIVE), SPG15 mehr |
ZFYVE26 (ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; SPASTIZIN) |
Sequencing |
€ 3360,00 |
|
|
FAMILIAL SPASTIC PARAPLEGIA 17, SPG17 mehr |
BSCL2 (SEIPIN) |
Sequencing |
€ 1140,00 |
|
|
FAMILIAL SPASTIC PARAPLEGIA 2 ( X-LINKED), SPG2 mehr |
PLP1 (PROTEOLIPID PROTEIN 1, PLP) |
Duplication |
€ 420,00 |
|
|
FAMILIAL SPASTIC PARAPLEGIA 2 ( X-LINKED), SPG2 mehr |
PLP1 (PROTEOLIPID PROTEIN 1, PLP) |
Whole Gene |
€ 780,00 |
|
|
FAMILIAL SPASTIC PARAPLEGIA 20 (AUTOSOMAL RECESSIVE), SPG20 mehr |
SPG20 (SPARTIN) |
Sequencing |
€ 1140,00 |
|
|
FAMILIAL SPASTIC PARAPLEGIA 6 (AUTOSOMAL DOMINANT), SPG6 mehr |
NIPA1 (NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME REGION 1) |
Whole Gene |
€ 1080,00 |
|
|
FAMILIAL SPASTIC PARAPLEGIA 8 (AUTOSOMAL DOMINANT), SPG8 mehr |
KIAA0196 (STRUMPELLIN) |
Sequencing |
€ 2640,00 |
|
|
FANCONI ANEMIA mehr |
FANCA |
8 Exons: Exons 13, 27, 29, 34-38, representing 67% of reported mutations |
€ 1200,00 |
|
|
FANCONI ANEMIA mehr |
FANCA |
14 Exons: Exons 1, 6, 7, 8, 11, 15, 16, 17, 19, 20, 32, 39, 42, 43, representing 25% of reported mutations |
€ 1800,00 |
|
|
FANCONI ANEMIA mehr |
FANCA |
Whole Gene |
€ 6000,00 |
|
|
FANCONI ANEMIA mehr |
FANCONI ANEMIA |
Mitomycin C Test |
€ 720,00 |
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C mehr |
FANCC |
See also Molecular Screening Tests Table |
€ 180,00 |
|
|
Fanconi-Bickel Syndrome mehr |
SLC2A2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 605,00 |
|
Fanconi-Bickel Syndrome mehr |
SLC2A2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
FECHTNER SYNDROME mehr |
MYH9 (MYOSIN, HEAVY CHAIN 9) |
Sequencing |
€ 1680,00 |
|
|
FEINGOLD SYNDROME mehr |
MYCN (V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED) |
Deletions |
€ 420,00 |
|
|
FEINGOLD SYNDROME mehr |
MYCN (V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED) |
Whole Gene |
€ 960,00 |
|
|
FETAL AKINESIA DEFORMATION SEQUENCE mehr |
RAPSN (RAPSYN, RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD) |
Sequencing |
€ 900,00 |
|
|
FGF14 (FIBROBLAST GROWTH FACTOR 14) mehr |
FGF14 (FIBROBLAST GROWTH FACTOR 14) |
Sequencing |
€ 456,00 |
|
|
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, FOP mehr |
ACVR1 (ACTIVIN A RECEPTOR, TYPE 1; ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2) |
c.617G>A (Arg206His) |
€ 420,00 |
|
|
FIBROMATOSIS, GINGIVAL, TYPE 1 mehr |
SOS1 (SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1) |
Sequencing |
€ 1440,00 |
|
|
FIBROMUSCULAR DYSPLASIA mehr |
COL3A1 |
Null Allele Detection |
€ 420,00 |
|
|
FIBROMUSCULAR DYSPLASIA mehr |
COL3A1 |
Biochemical Test |
€ 720,00 |
|
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 1, FEOM1, CFEOM3 mehr |
KIF21A (KINESIN FAMILY MEMBER 21A) |
Hot Spots (Exons 8, 20, 21) |
€ 684,00 |
|
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3, FEOM3, CFEOM3 mehr |
KIF21A (KINESIN FAMILY MEMBER 21A) |
Hot Spots (Exons 8, 20, 21) |
€ 684,00 |
|
|
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE2, FEOM2, CFEOM2 mehr |
ARIX (ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG , PHOX2A) |
Sequencing |
€ 684,00 |
|
|
FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY mehr |
WNT7A (WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A) |
Sequencing |
€ 720,00 |
|
|
FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY mehr |
GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) |
Sequencing |
€ 1140,00 |
|
|
FIRST TRIMESTER SCREENING mehr |
HUMAN CHORIONIC GONAOTROPIN (BETA HCG), PREGNANCY-ASSOCIATED PLASMA PROTEIN A (PAPP-A) |
Sequencing |
€ 120,00 |
|
|
FISH-EYE DISEASE mehr |
LCAT (LECITHIN:CHOLESTEROL ACYLTRANSFERASE) |
Sequencing |
€ 540,00 |
|
|
FISH-ODOR SYNDROME mehr |
FMO3 (FLAVIN - CONTAINING MONOOXYGENASE 3) |
Sequencing |
€ 540,00 |
|
|
Five'-Fluorouracil (5'-FU)-related toxicity mehr |
DPDexon14skipping |
1-2 Days |
€ 130,00 |
|
|
FLNB (FILAMIN B) mehr |
FLNB (FILAMIN B) |
Sequencing |
€ 2280,00 |
|
|
FOCAL DERMAL HYPOPLASIA mehr |
PORCN (PORCUPINE, DROSOPHILA, HOMOLOG OF) |
Sequencing |
€ 1320,00 |
|
|
FOCAL SEGMENTAL GLOMERULOSCLEROSIS mehr |
NPHS2, TRPC6, ACTN4 and CD2AP |
Sequencing |
€ 2640,00 |
|
|
FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY mehr |
MTTY (TRANSFER RNA, MITOCHONDRIAL, TYROSINE) |
Sequencing |
€ 1020,00 |
|
|
FOLLICULAR LYMPHOMA , FL mehr |
IgH / BCL2 |
t(14;18) |
€ 480,00 |
|
|
FORMIMINOTRANSFERASE DEFICIENCY mehr |
FTCD (FORMIMINOTRANSFERASE CYCLODEAMINASE) |
Sequencing |
€ 1800,00 |
|
|
FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME mehr |
PAX6 (PAIRED BOX GENE 6) |
Whole Gene and Deletion Analysis (MLPA) |
€ 1320,00 |
|
|
FOXP2 (FORKHEAD BOX P2; TRINUCLEOTIDE REPEAT-CONTAINING GENE 10) mehr |
FOXP2 (FORKHEAD BOX P2; TRINUCLEOTIDE REPEAT-CONTAINING GENE 10) |
Sequencing |
€ 2040,00 |
|
|
FRAGILE E SYNDROME, FRAXE mehr |
FMR2 |
Repeat |
€ 300,00 |
|
|
FRAGILE F SYNDROME mehr |
FRAXF (FRAGILE SITE F) |
Sequencing |
€ 216,00 |
|
|
Fragile X syndrome mehr |
FraXA;FMR1-gene |
1. stage: PCR analyis of the CGG-repeat |
3 Weeks |
€ 273,00 |
|
Fragile X syndrome mehr |
FraXA;FMR1-gene |
2. stage: methylation specific southern blot for CGG-repeat |
1-2 Weeks (prenatal diagnostic approx. 1 Week) |
€ 440,00 |
|
Fragile X syndrome mehr |
FraXA;FMR1-gene |
Methylation specific southern blot for CGG-repeat only |
1-2 Weeks (prenatal diagnostic approx. 1 Week) |
€ 440,00 |
|
Fragile X syndrome mehr |
FraXE;FMR2 |
Methylation specific southern blot for CCG-repeat |
Approx. 2 Weeks (prenatal diagnostic approx. 1 Week) |
€ 440,00 |
|
Fragile X syndrome mehr |
FraXE;FMR2 |
optional: PCR analyis of the CCG-repeat |
Approx. 2 Weeks (prenatal diagnostic approx. 1 Week) |
€ 280,00 |
|
FRASER SYNDROME mehr |
FREM2 (FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2) |
Exon 6 |
€ 300,00 |
|
|
Frasier syndrome mehr |
WT1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 440,00 |
|
Frasier syndrome mehr |
WT1 |
Multiplex Ligation-Dependent Probe Amplification (all 10 WT1 exons) |
2-4 Weeks |
€ 385,00 |
|
Frasier syndrome mehr |
WT1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
FRASIER SYNDROME mehr |
WT1 (WILMS TUMOR 1 GENE) |
Deletion-Duplication |
€ 480,00 |
|
|
Friedreich Ataxia mehr |
FXN |
Long range, PT-PCR |
4 Weeks |
€ 30,00 |
|
Friedreich Ataxia mehr |
FRDA-gene |
PCR analysis for GAA-repeat in intron 1 of the FRDA-gene |
3-4 Weeks |
€ 234,00 |
|
FRIEDREICH ATAXIA, FRDA mehr |
FRDAÂ (FRATAXINE) |
Whole Gene |
3-4 Weeks |
€ 586,00 |
|
FRIEDREICH ATAXIA, FRDA mehr |
FRDA (FRATAXINE) |
5 Exons: 1-5 |
€ 780,00 |
|
|
FRONTOMETAPHYSEAL DYSPLASIA mehr |
FLNA (FILAMIN A) |
Exons 22, 29 |
€ 432,00 |
|
|
FRONTOTEMPORAL DEMENTIA mehr |
MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU) |
Whole Gene |
€ 1800,00 |
|
|
FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE mehr |
GRN (GRANULIN, PROGRANULIN,
EPITHELIN) |
Deletions |
€ 480,00 |
|
|
FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE mehr |
GRN (GRANULIN, PROGRANULIN,
EPITHELIN) |
Whole Gene |
€ 1560,00 |
|
|
FRUCTOSE INTOLERANCE mehr |
ALDOB (ALDOLASE B) |
3 Common Mutations: A149P, A174D, N334K |
€ 180,00 |
|
|
FRUCTOSE INTOLERANCE mehr |
ALDOB (ALDOLASE B) |
Whole Gene |
€ 900,00 |
|
|
Fructose Intolerance, hereditary mehr |
AldolaseBdeficiency;ALDOB-gene |
Analysis of exon 5, 6 and 9 of the ALDOB-gene |
1-2 Weeks |
€ 528,00 |
|
Fructose Intolerance, hereditary mehr |
AldolaseBdeficiency;ALDOB-gene |
Analysis for deletions/dupl (MLPA) |
1-2 Weeks |
€ 363,00 |
|
FUCOSIDOSIS mehr |
FUCA1 (ALPHA-L-FUCOSIDASE) |
Sequencing |
€ 852,00 |
|
|
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY mehr |
FKTN (FUKUTIN; FCMD) |
Sequencing |
€ 1080,00 |
|
|
FUMARASE DEFICIENCY mehr |
FH (FUMARATE HYDRATASE, FUMARASE) |
Sequencing |
€ 1440,00 |
|
|
FUNDUS ALBIPUNCTATUS mehr |
PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) |
Sequencing |
€ 480,00 |
|
|
FUNDUS ALBIPUNCTATUS mehr |
RDH5 (RETINOL DEHYDROGENASE 5) |
Sequencing |
€ 684,00 |
|
|
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY mehr |
TIMP3 (TISSUE INHIBITOR OF METALLOPROTEINASE 3) |
Sequencing |
€ 960,00 |
|
|
|
|
|
|
|
G6PD DEFICIENCY mehr |
G6PD (GLUCOSE-6-PHOSPHATE DEHYDROGENASE) |
Sequencing |
€ 594,00 |
|
|
GALACTOKINASE DEFICIENCY mehr |
GALK1 (GALACTOKINASE 1) |
Sequencing |
€ 780,00 |
|
|
GALACTOSEMIA TYPE 1 mehr |
GALT (GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE) |
Whole Gene |
€ 1440,00 |
|
|
GALACTOSEMIA TYPE 1 mehr |
GALT (GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE) |
Whole Gene |
€ 1440,00 |
|
|
GARS (GLYCYL T RNA SYNTHETASE ) mehr |
GARS (GLYCYL T RNA SYNTHETASE ) |
Sequencing |
€ 1800,00 |
|
|
GASTRIC CANCER, FAMILIAL DIFFUSE mehr |
CDH1 (CADHERIN 1, UVOMORULIN) |
Deletion-Duplication |
€ 720,00 |
|
|
GASTROINTESTINAL STROMAL TUMOR, GIST mehr |
KIT |
MUTATIONS IN EXONS 9, 11, 13 AND 17 (GLEEVEC/IMATINIB RESPONSIVENESS) |
€ 720,00 |
|
|
GASTROINTESTINAL STROMAL TUMOR, GIST mehr |
MUTATIONS IN EXONS 12 AND 18 IN PDGFRA |
GLEEVEC / IMATINIB RESPONSIVENESS |
€ 480,00 |
|
|
GASTROINTESTINAL STROMAL TUMOR, GIST mehr |
MUTATIONS IN EXONS 9, 11, 13 AND 17 IN KIT |
GLEEVEC / IMATINIB RESPONSIVENESS |
€ 720,00 |
|
|
GASTROINTESTINAL STROMAL TUMOR, GIST mehr |
PDGFRA (PLATELET-DERIVED GROWTH FACTOR RECEPTOR, ALPHA, PDGFR2) |
MUTATIONS IN EXONS 12 AND 18 (GLEEVEC/IMATINIB RESPONSIVENESS) |
€ 480,00 |
|
|
GAUCHER DISEASE, TYPE 1 mehr |
GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE) |
See also Molecular Screening Tests Table |
€ 180,00 |
|
|
GAUCHER DISEASE, TYPE 1 mehr |
GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE) |
Whole Gene |
€ 1440,00 |
|
|
GAUCHER DISEASE, TYPE 2 mehr |
GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE) |
See also Molecular Screening Tests Table |
€ 180,00 |
|
|
GAUCHER DISEASE, TYPE 2 mehr |
GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE) |
Whole Gene |
€ 1440,00 |
|
|
GAUCHER DISEASE, TYPE 3 mehr |
GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE) |
See also Molecular Screening Tests Table |
€ 180,00 |
|
|
GAUCHER DISEASE, TYPE 3 mehr |
GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE) |
Whole Gene |
€ 1440,00 |
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS mehr |
GABRD |
Sequencing |
4 Weeks |
€ 880,00 |
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+ mehr |
GABRG2 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2) |
Sequencing |
€ 1200,00 |
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+ mehr |
SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) |
Whole Gene and Deletions-Duplications |
€ 2184,00 |
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+ mehr |
SCN2A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 2, ALPHA SUBUNIT) |
Sequencing |
€ 2640,00 |
|
|
GENOME SEARCH WITH 400 MICRO-SATELLITES mehr |
GENOME SEARCH WITH 400 MICRO-SATELLITES |
(request price) |
€ 0,00 |
|
|
GERSTMANN-STRAUSSLER DISEASE, GSD mehr |
PRNP (PRION PROTEIN) |
Sequencing |
€ 360,00 |
|
|
GIANT AXONAL NEUROPATHY 1 mehr |
GAN (GAN GENE, GIGAXONIN) |
Sequencing |
€ 1020,00 |
|
|
Gilbert syndrome mehr |
UGT1A1 |
Fragment analysis; sequencing (if neccessary) |
2 Weeks |
€ 660,00 |
|
Gilbert syndrome mehr |
UGT1A1-gene |
Promoter TA-repeat in the UGT1A1-gene |
2 Weeks |
€ 130,00 |
|
Gilbert syndrome mehr |
UGT1A1 |
Detection of the A(TA)7TAA allele in the UGT1A1 gene promotor |
3 Weeks |
€ 319,00 |
|
Gitelman syndrome mehr |
SLC12A3 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1265,00 |
|
Gitelman syndrome mehr |
SLC12A3 |
Multiplex Ligation-Dependent Probe Amplification; each exon of theSLC12A3 (except exon 6) |
2-4 Weeks |
€ 385,00 |
|
Gitelman syndrome mehr |
SLC12A3 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
GLAUCOMA mehr |
CYP1B1, OPTN and MYOC |
Analysis of 3 Genes |
€ 720,00 |
|
|
GLAUCOMA 3, PRIMARY INFANTILE A, GLC3A mehr |
CYP1B1 (CYTOCHROME P450, SUBFAMILY 1, POLYPEPTIDE 1) |
See also CYP1B1, OPTN and MYOC |
€ 264,00 |
|
|
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, POAG mehr |
OPTN (OPTINEURIN) |
See also CYP1B1, OPTN and MYOC |
€ 384,00 |
|
|
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, POAG mehr |
WDR36 (WD40-REPEAT 36) |
Sequencing |
€ 720,00 |
|
|
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1 mehr |
MYOC (MYOCILIN) |
See also CYP1B1, OPTN and MYOC |
€ 264,00 |
|
|
GLOBIN mehr |
GLOBIN |
See HBB ( |
€ 0,00 |
|
|
Glomerulonephritis (IgA nephropathy) mehr |
CFH |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1100,00 |
|
Glomerulonephritis (IgA nephropathy) mehr |
CFH |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Glomerulosclerosis 1 mehr |
ACTN4 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1155,00 |
|
Glomerulosclerosis 1 mehr |
ACTN4 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Glomerulosclerosis 2 mehr |
TRPC6 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 715,00 |
|
Glomerulosclerosis 2 mehr |
TRPC6 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Glomerulosclerosis 3 mehr |
CD2AP |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 990,00 |
|
Glomerulosclerosis 3 mehr |
CD2AP |
Carrier testing |
2 Weeks |
€ 180,00 |
|
GLUCOCORTICOID DEFICIENCY 1 mehr |
MC2R (MELANOCORTIN 2 RECEPTOR; ACTH RECEPTOR) |
Sequencing |
€ 480,00 |
|
|
GLUCOCORTICOID DEFICIENCY 2 mehr |
MRAP (MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN) |
(request price) |
€ 0,00 |
|
|
GLUCOCORTICOID RECEPTOR DEFICIENCY mehr |
NR3C1 |
Sequencing |
€ 780,00 |
|
|
Glucocorticoid- remediable aldosteronism mehr |
CYP11B1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 495,00 |
|
Glucocorticoid- remediable aldosteronism mehr |
CYP11B1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Glucocorticoid- remediable aldosteronism mehr |
CYP11B2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 495,00 |
|
Glucocorticoid- remediable aldosteronism mehr |
CYP11B2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER mehr |
SLC2A1 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; GLUT1; ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER) |
Deletion-Duplication |
€ 720,00 |
|
|
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER mehr |
SLC2A1 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; GLUT1; ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER) |
Whole Gene |
€ 1320,00 |
|
|
Glucose-6-P-dehydrogenase-deficiency mehr |
Favism;G6PD-gene |
1-2 Weeks |
€ 1760,00 |
|
|
Glucose-Galactose Malabsorption mehr |
SLC5A1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 825,00 |
|
Glucose-Galactose Malabsorption mehr |
SLC5A1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
GLUT1 DEFICIENCY SYNDROME mehr |
GLUT1 |
Sequencing |
4 Weeks |
€ 1100,00 |
|
Glutaric aciduria type 1 mehr |
GCDH |
Complete sequencing of GCDH gene |
5 weeks |
€ 600,00 |
|
Glutation-S-Transferase mehr |
GSTM1-,GSTT1-gene |
GSTM1 and GSTT1 null-polymorphisms |
1 Week |
€ 160,00 |
|
GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL mehr |
PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2, AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2) |
Sequencing |
€ 780,00 |
|
|
Glycogen Storage Disease Type Ia mehr |
G6PC |
Mutation screening in exons 2 and 3 of the G6PC gene |
2-4 weeks |
€ 360,00 |
|
Glycogen Storage Disease Type V mehr |
PYGM |
Detection of the R50X mutation in the PYGM gene |
€ 360,00 |
|
|
Glycogen Storage Disease Type V mehr |
PYGM |
Mutation scanning of the exons 5, 14, 17 and 18 of the PYGM gene |
€ 672,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 0 mehr |
GYS2 (GLYCOGEN SYNTHASE 2) |
Sequencing |
€ 1440,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 1A mehr |
G6PC (GLUCOSE-6-PHOSPHATASE) |
Sequencing |
€ 684,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 1B mehr |
G6PT1 (GLUCOSE-6-PHOSPHATE TRANSPORTER 1, GLUCOSE-6-PHOSPHATE TRANSLOCASE) |
Sequencing |
€ 852,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 1B mehr |
SLC37A4 (GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1; GLUCOSE-6-PHOSPHATE TRANSLOCASE) |
Sequencing |
€ 960,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 2 mehr |
GAA (GLUCOSIDASE, ALPHA, ACID, ACID MALTASE) |
Sequencing |
€ 2040,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 2B mehr |
LAMP2 (LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2) |
Sequencing |
€ 900,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 3 mehr |
AGL (AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFER, GLYCOGEN DEBRANCHER ENZYME) |
Sequencing |
€ 2520,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 4 mehr |
GBE1 (GLYCOGEN BRANCHING ENZYME) |
Deletion-Duplication |
€ 720,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 4 mehr |
GBE1 (GLYCOGEN BRANCHING ENZYME) |
Whole Gene |
€ 1800,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 5 mehr |
PYGM (GLYCOGEN PHOSPHORYLASE, MUSCLE, MYOPHOSPHORYLASE) |
Sequencing |
€ 1872,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 6 mehr |
PYGL (GLYCOGEN PHOSPHORYLASE, LIVER) |
Sequencing |
€ 1800,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 7 mehr |
PFKM (PHOSPHOFRUCTOKINASE, MUSCLE TYPE) |
(request price) |
€ 0,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 9A mehr |
PHKA2 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-2 SUBUNIT) |
Sequencing |
€ 2400,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 9B mehr |
PHKB (PHOSPHORYLASE KINASE, BETA SUBUNIT) |
Sequencing |
€ 2640,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 9C mehr |
PHKG2 (PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2) |
Sequencing |
€ 840,00 |
|
|
GLYCOGEN STORAGE DISEASE, TYPE 9D mehr |
PHKA1 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT) |
Sequencing |
€ 2400,00 |
|
|
GM1-GANGLIOSIDOSIS, TYPE 1 mehr |
GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) |
Sequencing |
€ 1920,00 |
|
|
GM1-GANGLIOSIDOSIS, TYPE 2 mehr |
GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) |
Sequencing |
€ 1920,00 |
|
|
GM1-GANGLIOSIDOSIS, TYPE 3 mehr |
GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) |
Sequencing |
€ 1920,00 |
|
|
GOITER, FAMILIAL, WITH HYPOTHYROIDISM (AUTOSOMAL RECESSIVE) mehr |
TG (SIMPLE, THYROGLOBULIN) |
Sequencing |
€ 360,00 |
|
|
Gonadal dysgenesis mehr |
SRY |
Complete sequence of SRY gene |
5 weeks |
€ 360,00 |
|
Gonadal dysgenesis mehr |
SRY |
Determination of presence/absence of SRY gene by PCR |
5 weeks |
€ 154,00 |
|
Gonadal dysgenesis mehr |
- |
550 bands karyotyping |
5 weeks |
€ 151,00 |
|
GONADAL DYSGENESIS mehr |
Yp11.3 / Xp11.1-q11.1 deletion |
Sequencing |
€ 480,00 |
|
|
GONADAL DYSGENESIS, 46XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY mehr |
DHH (DESERT HEDGEHOG) |
Sequencing |
€ 840,00 |
|
|
GONADAL DYSGENESIS, XY TYPE mehr |
DHH (DESERT HEDGEHOG) |
Sequencing |
€ 840,00 |
|
|
Gorlin Syndrome/Nevoid Basal Cell Carcinoma Syndrome mehr |
PTCH |
Complete sequencing of the PTCH gene |
5 weeks |
€ 1803,00 |
|
GOUT, HPRT-RELATED mehr |
HPRT1 (HYPOXANTHINE GUANINE PHOSPHORIBOSYL TRANSFERASE 1, HGPRT) |
Sequencing |
€ 480,00 |
|
|
GRACILE SYNDROME mehr |
BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) |
Sequencing |
€ 720,00 |
|
|
GRAVES DISEASE mehr |
TSHR (THYROID-STIMULATING HORMONE RECEPTOR) |
Sequencing |
€ 600,00 |
|
|
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME mehr |
GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
Deletions |
€ 420,00 |
|
|
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME mehr |
GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
Whole Gene |
€ 2040,00 |
|
|
Growth hormone deficiency mehr |
GH1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 230,00 |
|
Growth hormone deficiency mehr |
GH1 |
Multiplex Ligation-Dependent Probe Amplification; each exon of the GH1 (except exon 2) |
2-4 Weeks |
€ 385,00 |
|
Growth hormone deficiency mehr |
GH1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
GTP CYCLOHYDROLASE 1 DEFICIENCY mehr |
GCH1 (GTP CYCLOHYDROLASE 1) |
Sequencing |
€ 660,00 |
|
|
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY mehr |
GAMT (GUANIDINOACETATE METHYLTRANSFERASE) |
Sequencing |
€ 840,00 |
|
|
GUTTMACHER SYNDROME mehr |
HOXA 13 |
Sequencing |
€ 612,00 |
|
|
|
|
|
|
|
HAD deficiency mehr |
HAD |
Sequencing |
4 Weeks |
€ 880,00 |
|
HAILEY-HAILEY DISEASE mehr |
ATP2C1 |
Sequencing |
€ 3240,00 |
|
|
HALLERVORDEN-SPATZ DISEASE mehr |
PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) |
Sequencing |
€ 2280,00 |
|
|
HALLERVORDEN-SPATZ DISEASE mehr |
PANK2 (PANTOTHENATE KINASE 2) |
Whole Gene and Deletions-Duplications |
€ 1440,00 |
|
|
HAND-FOOT-UTERUS SYNDROME mehr |
HOXA 13 |
Sequencing |
€ 612,00 |
|
|
HARP SYNDROME (HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENE mehr |
PANK2 (PANTOTHENATE KINASE 2) |
Whole Gene and Deletions-Duplications |
€ 1440,00 |
|
|
HAW RIVER SYNDROME, HRS mehr |
DRPLA (ATROPHIN 1) |
Repeat |
€ 192,00 |
|
|
HDR syndrome, hypoparathyreodism, deafness and renal insufficiency mehr |
GATA3-gene |
Sequencing |
1-2 Weeks |
€ 770,00 |
|
HEART BLOCK, FAMILIAL mehr |
SCN5A |
See also LONG QT PANEL 1, 2 and 3 |
€ 3360,00 |
|
|
HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO mehr |
IFNGR1 (INTERFERON, GAMMA, RECEPTOR 1, ANTIVIRAL PROTEIN, TYPE 2) |
Sequencing |
€ 1440,00 |
|
|
HEMATURIA, BENIGN FAMILIAL mehr |
COL4A3 |
Sequencing |
€ 1860,00 |
|
|
HEMATURIA, BENIGN FAMILIAL mehr |
COL4A4 |
Sequencing |
€ 1860,00 |
|
|
Hemochromatosis mehr |
HFE |
C282Y, H63D, S65C |
1 Day - 2 Weeks |
€ 30,00 |
|
Hemochromatosis mehr |
HFE |
DNA Sequencing; Ex 2 and Ex 4 |
2-4 Weeks |
€ 100,00 |
|
Hemochromatosis (HFE) mehr |
HFE |
Snapshot |
1 Week |
€ 385,00 |
|
Hemochromatosis (HFE) mehr |
HFE |
Sequencing |
4 weeks |
€ 471,00 |
|
Hemochromatosis, juvenile type mehr |
HAMP-gene |
2 Weeks |
€ 330,00 |
|
|
HEMOCHROMATOSIS, TYPE 1, HFE1 mehr |
HFE |
4 Mutations (C282Y, H63D, S65C, E168X) |
€ 336,00 |
|
|
HEMOCHROMATOSIS, TYPE 2, HFE2 mehr |
HJV (HEMOJUVELIN) |
Sequencing |
€ 840,00 |
|
|
HEMOCHROMATOSIS, TYPE 3, HFE3 mehr |
TFR2 (TRANSFERRIN RECEPTOR 2) |
Sequencing |
€ 1380,00 |
|
|
HEMOCHROMATOSIS, TYPE 4, HFE4 mehr |
SLC40A1 (FERROPORTIN 1, IREG1, SLC11A3) |
Sequencing |
€ 1140,00 |
|
|
HEMOLYTIC ANEMIA DUE TO BAND 3 MONTEFIORE mehr |
SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) |
Sequencing |
€ 1200,00 |
|
|
HEMOLYTIC DISEASE, NEWBORN mehr |
FY (DUFFY BLOOD GROUP SYSTEM) |
1 Mutation: G44D |
€ 192,00 |
|
|
Hemolytic- Uremic Syndrome mehr |
ADAMTS13 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Hemolytic- Uremic Syndrome mehr |
ADAMTS13 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hemolytic- Uremic Syndrome mehr |
C3 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1320,00 |
|
Hemolytic- Uremic Syndrome mehr |
CFB |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 990,00 |
|
Hemolytic- Uremic Syndrome mehr |
CFB |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hemolytic- Uremic Syndrome mehr |
CFH |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1100,00 |
|
Hemolytic- Uremic Syndrome mehr |
CFH |
Multiplex Ligation-Dependent Probe Amplification (12 exons: Ex: 1, 2,3,4,6,9,11,12,13,15,18,23) |
2-4 Weeks |
€ 385,00 |
|
Hemolytic- Uremic Syndrome mehr |
CFH |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hemolytic- Uremic Syndrome mehr |
CFI |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 715,00 |
|
Hemolytic- Uremic Syndrome mehr |
CFI |
Multiplex Ligation-Dependent Probe Amplification (each of the 11 CFI exons ) |
2-4 Weeks |
€ 385,00 |
|
Hemolytic- Uremic Syndrome mehr |
CFI |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hemolytic- Uremic Syndrome mehr |
MCP |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 770,00 |
|
Hemolytic- Uremic Syndrome mehr |
MCP |
Multiplex Ligation-Dependent Probe Amplification; each exon of theSLC12A3 (except exon 4) |
2-4 Weeks |
€ 385,00 |
|
Hemolytic- Uremic Syndrome mehr |
MCP |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hemophagocytic Lymphohistiocytosis, familial (FHL2, 3, 4) mehr |
PRF1,UNC13D,STX11 |
Sequencing |
6 Weeks |
€ 550,00 |
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 2, FHL2 mehr |
PRF1 (PERFORIN 1, PORE-FORMING PROTEIN) |
Sequencing |
€ 720,00 |
|
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 3, FHL3 mehr |
UNC13D (UNC13, C. ELEGANS, HOMOLOG OF, D, MUNC13-4) |
Sequencing |
€ 3000,00 |
|
|
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 4, FHL4 mehr |
STX11 (SYNTAXIN 11) |
Sequencing |
€ 780,00 |
|
|
Hemophilia A mehr |
F8 |
Detection of inversion in intron 22 of F8 gene |
5 weeks |
€ 236,00 |
|
Hemophilia A mehr |
F8 |
Complete sequencing of the F8 gene |
4 weeks |
€ 745,00 |
|
Hemophilia B mehr |
F9 |
Complete sequencing of F9 gene |
4 weeks |
€ 558,00 |
|
HEPATIC ADENOMA� mehr |
HNF1A (TCF1) |
Whole Gene |
€ 630,00 |
|
|
HEPATIC ADENOMA mehr |
HNF1A (TCF1) |
Deletion-Duplication |
€ 420,00 |
|
|
HEPATIC FAILURE, EARLY-ONSET, AND NEUROLOGIC DISORDER DUE TO CYTOCHROME c OXIDASE DEFICIENCY mehr |
SCO1 (S. CEREVISIAE, HOMOLOG OF, CYTOCHROME OXIDASE-DEFICIENT 1, S. CEREVISIAE, HOMOLOG OF) |
Sequencing |
€ 720,00 |
|
|
HEPATIC LIPASE DEFICIENCY mehr |
LIPC (HEPATIC LIPASE, LIPH, HEPATIC TRIGLYCERIDE LIPASE, HTGL) |
Sequencing |
€ 1020,00 |
|
|
HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE mehr |
MET (MET PROTOONCOGENE; HEPATOCYTE GROWTH FACTOR RECEPTOR) |
Sequencing |
€ 2640,00 |
|
|
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER, HLRCC mehr |
FH (FUMARATE HYDRATASE, FUMARASE) |
Sequencing |
€ 1056,00 |
|
|
HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, HNPP mehr |
PMP22 (PERIPHERAL MYELIN PROTEIN) |
Whole Gene |
€ 720,00 |
|
|
Hereditary neuropathy with liability to pressure palsy mehr |
HNPP;PMP22-gene |
MLPA analysis for PMP22-deletion |
2 Weeks |
€ 363,00 |
|
HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, HNPCC mehr |
IMMUNOHISTOCHEMISTRY |
ANTIBODIES TO MLH1, MSH2, MSH6 AND PMS2 |
€ 360,00 |
|
|
HEREDITARY NON-POLYPOSIS COLORECTAL CANCER, HNPCC mehr |
MSI - MICROSATELLITE INSTABILITY |
5 MARKERS: BAT25, BAT26, D2S123, D5S346 AND D17S250 |
€ 360,00 |
|
|
HEREDITARY PANCREATITIS mehr |
CTRC (CHYMOTRYPSIN C, CALDECRIN) |
Sequencing |
€ 960,00 |
|
|
HERMANSKY-PUDLAK SYNDROME mehr |
HPS1 |
Sequencing |
4 Weeks |
€ 1560,00 |
|
HERMANSKY-PUDLAK SYNDROME mehr |
HPS3 |
Sequencing |
4 Weeks |
€ 1430,00 |
|
HERMANSKY-PUDLAK SYNDROME mehr |
HPS7 |
Sequencing |
4 Weeks |
€ 1100,00 |
|
HERMANSKY-PUDLAK SYNDROME mehr |
HPS1 |
1 Mutation: 16bp Duplication |
€ 300,00 |
|
|
HERMANSKY-PUDLAK SYNDROME mehr |
HPS1 and HPS3 |
3 Mutations: 16bp Duplication, 3.9kb Deletion and IVS5+1G>A |
€ 540,00 |
|
|
HERMANSKY-PUDLAK SYNDROME mehr |
HPS3 |
2 Mutations: 3.9kb Deletion and IVS5+1G>A Mutation |
€ 300,00 |
|
|
HERMANSKY-PUDLAK SYNDROME mehr |
HPS4 |
Whole Gene |
€ 1560,00 |
|
|
HETEROTAXY, VISCERAL (X-LINKED) mehr |
ZIC3 |
Sequencing |
€ 660,00 |
|
|
HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT) mehr |
FLNA (FILAMIN A) |
Sequencing |
€ 6600,00 |
|
|
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT mehr |
FLNA (FILAMIN A) |
Sequencing |
€ 6600,00 |
|
|
HIBERNIAN FEVER, FAMILIAL mehr |
TNFRSF1A (TNFR1) |
Exons 2-4 (> 95% of mutations) |
€ 276,00 |
|
|
Hidrotic Ectodermal Dysplasia mehr |
GJB6 |
Complete sequencing of the GJB6 gene |
3 Weeks |
€ 180,00 |
|
HIRSCHSPRUNG DISEASE WITH NEUROBLASTOMA mehr |
PHOX2B |
Sequencing |
€ 720,00 |
|
|
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, TYPE 2 mehr |
EDNRB (ENDOTHELIN RECEPTOR, TYPE B) |
Sequencing |
€ 600,00 |
|
|
HIRSCHSPRUNG DISEASE, TYPE 1 mehr |
RET (RET KINASE) |
Whole Gene |
€ 1800,00 |
|
|
HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME, LATE INFANTILE mehr |
ZFHX1B (ZINC FINGER HOMEOBOX 1B; ZFHX1B, SMAD-INTERACTING PROTEIN 1, SMADIP1, SIP1) |
Whole Gene |
€ 720,00 |
|
|
HLA Typing Tests HLA-A mehr |
HLA-A |
Low (2 digits) Resolution |
€ 120,00 |
|
|
HLA Typing Tests HLA-A mehr |
HLA-A |
High (4 digits) Resolution |
€ 264,00 |
|
|
HLA Typing Tests HLA-A / B / C mehr |
HLA-A / B / C |
Low (2 digits) Resolution |
€ 300,00 |
|
|
HLA Typing Tests HLA-A / B / C mehr |
HLA-A / B / C |
High (4 digits) Resolution |
€ 660,00 |
|
|
HLA Typing Tests HLA-B mehr |
HLA-B |
Low (2 digits) Resolution |
€ 120,00 |
|
|
HLA Typing Tests HLA-B mehr |
HLA-B |
High (4 digits) Resolution |
€ 264,00 |
|
|
HLA Typing Tests HLA-C mehr |
HLA-C |
Low (2 digits) Resolution |
€ 120,00 |
|
|
HLA Typing Tests HLA-C mehr |
HLA-C |
High (4 digits) Resolution |
€ 264,00 |
|
|
HLA Typing Tests HLA-DPA1 mehr |
HLA-DPA1 |
High (4 digits) Resolution |
€ 180,00 |
|
|
HLA Typing Tests HLA-DPB1 mehr |
HLA-DPB1 |
High (4 digits) Resolution |
€ 180,00 |
|
|
HLA Typing Tests HLA-DQA1 mehr |
HLA-DQA1 |
High (4 digits) Resolution |
€ 180,00 |
|
|
HLA Typing Tests HLA-DQB1 mehr |
HLA-DQB1 |
Low (2 digits) Resolution |
€ 90,00 |
|
|
HLA Typing Tests HLA-DQB1 mehr |
HLA-DQB1 |
High (4 digits) Resolution |
€ 180,00 |
|
|
HLA Typing Tests HLA-DRB1 mehr |
HLA-DRB1 |
Low (2 digits) Resolution |
€ 114,00 |
|
|
HLA Typing Tests HLA-DRB1 mehr |
HLA-DRB1 |
High (4 digits) Resolution |
€ 180,00 |
|
|
HLA Typing Tests HLA-DRB3 / B4 / B5 mehr |
HLA-DRB3 / B4 / B5 |
High (4 digits) Resolution |
€ 120,00 |
|
|
HLA-genotyping mehr |
HLA-B27 |
Analysis for HLA-B 27 |
2 Days - 2 Weeks |
€ 110,00 |
|
HMG-COA LYASE DEFICIENCY mehr |
HMGCL (HMG - COA SYNTHETASE) |
Sequencing |
€ 1320,00 |
|
|
HODGKIN LYMPHOMA mehr |
REL |
2p13 - p12 |
€ 480,00 |
|
|
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY mehr |
HLCS (HOLOCARBOXYLASE SYNTHETASE; HCS) |
Sequencing |
€ 1200,00 |
|
|
Holoprosencephaly 1 (HPE1) mehr |
SIX3 |
Sequencing |
6 Weeks |
€ 770,00 |
|
Holoprosencephaly 3 (HPE2) mehr |
SHH |
Sequencing |
6 Weeks |
€ 600,00 |
|
Holoprosencephaly 5 (HPE5) mehr |
ZIC2 |
Sequencing |
0 |
€ 770,00 |
|
HOLOPROSENCEPHALY 7, HPE7 mehr |
PTCH (PATCHED, PTC) |
Sequencing |
€ 2640,00 |
|
|
HOLOPROSENCEPHALY mehr |
SHH, SIX3, TGIF and ZIC2 |
Screening for Frequent Mutations in 4 Genes |
€ 2160,00 |
|
|
Holt-Oram syndrome (HOS) mehr |
TBX5 |
Sequencing |
3 Weeks |
€ 432,00 |
|
Holt-Oram syndrome (HOS) mehr |
TBX5 |
Sequencing Exons 6, 7 and 8 |
€ 410,00 |
|
|
HOLT-ORAM SYNDROME, HOS1 mehr |
TBX5 (T-BOX 5) |
Deletions |
€ 420,00 |
|
|
Homocysteinemia Methylenetetrahydrofolate-reductase mehr |
MTHFR |
677C>T and 1298A>C polymorphism |
1-3 Days |
€ 90,00 |
|
HOMOCYSTINURIA mehr |
CBS (CYSTATHIONINE BETA-SYNTHASE) |
Exons 4 and 8 (Including GLY307SER and ILE278THR) |
€ 480,00 |
|
|
HOMOCYSTINURIA mehr |
CBS (CYSTATHIONINE BETA-SYNTHASE) |
Whole Gene |
€ 1440,00 |
|
|
HOYERAAL-HREIDARSSON SYNDROME mehr |
DKC1 (DYSKERIN) |
Sequencing |
€ 2100,00 |
|
|
HSPD1 (HEAT-SHOCK 60-KD PROTEIN 1, SPG13) mehr |
HSPD1 (HEAT-SHOCK 60-KD PROTEIN 1, SPG13) |
Sequencing |
€ 1080,00 |
|
|
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 (HIV, AIDS), SUSCEPTIBILITY TO mehr |
CCR5 (CHEMOKINE, CC MOTIF, RECEPTOR 5) |
32-bp Deletion |
€ 276,00 |
|
|
Huntington disease (HD) mehr |
HD |
Repeat expansion detection |
1 Week |
€ 230,00 |
|
HUNTINGTON DISEASE-LIKE 1, HDL1 mehr |
PRNP (PRION PROTEIN) |
Sequencing |
€ 360,00 |
|
|
HUNTINGTON DISEASE-LIKE 2, HDL2 mehr |
JPH3 (JUNCTOPHILIN 3) |
Repeat |
€ 420,00 |
|
|
Huntington`s disease mehr |
IT15-gene |
1. stage:CAG-repeat |
1 Week |
€ 280,00 |
|
Huntington`s disease mehr |
IT15-gene |
2. stage:additional analysis if only one allele is detected in stage 1 |
1 Week |
€ 60,00 |
|
Hutchinson-Gilford progeria syndrome (HGPS) mehr |
LMNA |
Sequencing |
4 Weeks |
€ 840,00 |
|
HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS, HSAS mehr |
L1 (L1CAM) |
Sequencing |
€ 1080,00 |
|
|
Hyper-IgD syndrome (HIDS) mehr |
MVK |
Sequencing |
1-3 Weeks |
€ 600,00 |
|
HYPERANDROGENISM mehr |
CYP21A2 |
Whole Gene and Deletions-Duplications |
€ 900,00 |
|
|
HYPERCHOLESTEROLEMIA mehr |
APOB (APOLIPOPROTEIN B, APOB100, APOB48) |
3 mutations: R3500Q, R3500W, H3543Y |
€ 300,00 |
|
|
HYPERCHOLESTEROLEMIA mehr |
LDLR and APOB |
LIPO CHIP 203 mutations in LDLR and 4 mutations in APOB |
€ 1200,00 |
|
|
HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT) mehr |
LDLR (LDL RECEPTOR) |
Whole LDLR Gene + 3 Exons in APOB |
€ 1200,00 |
|
|
HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT), TYPE B mehr |
APOB (APOLIPOPROTEIN B, APOB100, APOB48) |
2 Mutations: R3500Q and R3531C |
€ 261,00 |
|
|
HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH mehr |
ARH |
Sequencing |
€ 960,00 |
|
|
HYPERCHYLOMICRONEMIA mehr |
APOC2 (APOLIPOPROTEIN C2) |
Sequencing |
€ 480,00 |
|
|
HYPEREKPLEXIA mehr |
GLRA1 (GLYCINE RECEPTOR, ALPHA-1 SUBUNIT) |
7 Exons |
€ 1080,00 |
|
|
HYPEREKPLEXIA mehr |
GLRB (GLYCINE RECEPTOR, BETA SUBUNIT) |
Sequencing |
€ 780,00 |
|
|
HYPEREOSINOPHILIC SYNDROME mehr |
del(4)(q12q12) WITH FIP1L1-PDGFRA FUSION |
GLEEVEC / IMATINIB RESPONSIVENESS |
€ 360,00 |
|
|
HYPEREOSINOPHILIC SYNDROME mehr |
FIP1L1-PDGFRA fusion |
Sequencing |
€ 360,00 |
|
|
HYPEREOSINOPHILIC SYNDROME mehr |
FUSION OF PDGFRB TO TEL/ETV6 |
GLEEVEC / IMATINIB RESPONSIVENESS |
€ 240,00 |
|
|
HYPEREOSINOPHILIC SYNDROME mehr |
TEL / PDGFRB |
t(5;12)(q33;p13) Follow-up |
€ 360,00 |
|
|
HYPEREOSINOPHILIC SYNDROME mehr |
V617F Mutation in JAK2 |
Diagnostic |
€ 360,00 |
|
|
Hyperferritinemia-cataract syndrome mehr |
FTL |
Sequencing |
2 Weeks |
€ 180,00 |
|
HYPERGONADOTROPIC HYPOGONADISM, FEMALE mehr |
LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR ) |
Sequencing |
€ 1200,00 |
|
|
HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME (AUTOSOMAL DOMINANT) mehr |
STAT (SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; ACUTE-PHASE RESPONSE FACTOR;) |
Common Mutations: Exons 13, 14, 15, 16, 20 and 21 |
€ 960,00 |
|
|
Hyperinsulinemic hypoglycemia 1 mehr |
ABCC8 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Hyperinsulinemic hypoglycemia 1 mehr |
ABCC8 |
Multiplex Ligation-Dependent Probe Amplification; each exon of the ABCC8 gene |
2-4 Weeks |
€ 385,00 |
|
Hyperinsulinemic hypoglycemia 1 mehr |
ABCC8 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hyperinsulinemic hypoglycemia 2 mehr |
KCNJ11 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
Hyperinsulinemic hypoglycemia 2 mehr |
KCNJ11 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hyperinsulinemic hypoglycemia 3 mehr |
GCK |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 495,00 |
|
Hyperinsulinemic hypoglycemia 3 mehr |
GCK |
Multiplex Ligation-Dependent Probe Amplification; each exon of theGCK gene |
2-4 Weeks |
€ 385,00 |
|
Hyperinsulinemic hypoglycemia 3 mehr |
GCK |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hyperinsulinemic hypoglycemia 5 mehr |
INSR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Hyperinsulinemic hypoglycemia 5 mehr |
INSR |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hyperinsulinemic hypoglycemia 6 mehr |
GLUD1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 660,00 |
|
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6 mehr |
GLUD1 (GLUTAMATE DEHYDROGENASE 1) |
Exons 6, 7, 10, 11 and 12 |
€ 660,00 |
|
|
Hyperinsulinism mehr |
ABCC8-gene |
1-2 Weeks |
€ 2750,00 |
|
|
Hyperinsulinism mehr |
GCK-gene |
1-2 Weeks |
€ 1683,00 |
|
|
Hyperinsulinism mehr |
GLUD1-gene |
Stage 1: sequencing analysis exons 6, 7, 8, 11 and 12 |
1-2 Weeks |
€ 715,00 |
|
Hyperinsulinism mehr |
GLUD1-gene |
Stage 2: sequencing analysis exons 1-5, 9, 10, 13 |
1-2 Weeks |
€ 1452,00 |
|
Hyperinsulinism mehr |
KCNJ11-gene |
1-2 Weeks |
€ 605,00 |
|
|
HYPERKALEMIC PERIODIC PARALYSIS, HYPP mehr |
SCN4A |
Exons 9, 12-14, 19, 21-24 |
€ 1080,00 |
|
|
Hyperlipidemia mehr |
LDL-receptor(LDLR-gene) |
MLPA analysis |
4 Weeks |
€ 363,00 |
|
Hyperlipidemia mehr |
ApolipoproteineB(APOB-gene) |
Analysis for mutations R3500Q, R3500W, R3531C |
1 Week |
€ 90,00 |
|
Hyperlipidemia mehr |
ApolipoproteineE(APOE-gene) |
*2 *3 *4 genotyping |
1 Week |
€ 105,00 |
|
Hyperlipidemia mehr |
APOB |
Restriction digest |
2-4 Weeks |
€ 180,00 |
|
Hyperlipidemia mehr |
APOC2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 550,00 |
|
Hyperlipidemia mehr |
APOC2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hyperlipidemia mehr |
APOE |
Targeted mutation analysis; C112A,A158C |
2-4 Weeks |
€ 105,00 |
|
Hyperlipidemia mehr |
LDLR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 990,00 |
|
Hyperlipidemia mehr |
LDLR |
Multiplex Ligation-Dependent Probe Amplification ( each of the 18 LDLR exons) |
2-4 Weeks |
€ 385,00 |
|
Hyperlipidemia mehr |
LDLR |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hyperlipidemia mehr |
LDLRAP1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 440,00 |
|
Hyperlipidemia mehr |
LDLRAP1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hyperlipidemia mehr |
LPL |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 605,00 |
|
Hyperlipidemia mehr |
LPL |
Multiplex Ligation-Dependent Probe Amplification; each exon of the LPL (except exon 7) |
2-4 Weeks |
€ 385,00 |
|
Hyperlipidemia mehr |
LPL |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hyperlipidemia mehr |
APOB |
DNA Strip Technology |
2-4 weeks |
€ 80,00 |
|
HYPERLIPOPROTEINEMIA TYPE 1 mehr |
LPL (LIPOPROTEIN LIPASE) |
Deletion-Duplication |
€ 420,00 |
|
|
Hyperoxaluria type I mehr |
AGXT |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 605,00 |
|
Hyperoxaluria type I mehr |
AGXT |
Multiplex Ligation-Dependent Probe Amplification; each of the 11 exons of AGXT |
2-4 Weeks |
€ 385,00 |
|
Hyperoxaluria type I mehr |
AGXT |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hyperoxaluria type II mehr |
GRHPR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 495,00 |
|
Hyperoxaluria type II mehr |
GRHPR |
Multiplex Ligation-Dependent Probe Amplification; each exon of theGRHPR (except exon 5) |
2-4 Weeks |
€ 385,00 |
|
Hyperoxaluria type II mehr |
GRHPR |
Carrier testing |
2 Weeks |
€ 180,00 |
|
HYPEROXALURIA, PRIMARY, TYPE 1 mehr |
AGXT (ALANINE-GLYOXYLATE AMINOTRANSFERASE, AGT, SERINE-PYRUVATE AMINOTRANSFERASE, SPT) |
3 Exons: 1, 4 and 7 (Including 33-34insC, 508A, 731C Mutations) |
€ 360,00 |
|
|
HYPEROXALURIA, PRIMARY, TYPE 2 mehr |
GRHPR (GLYOXYLATE REDUCTASE / HYDROXYPYRUVATE REDUCTASE, GLXR) |
2 Mutations: 103delG and c.403_405+2delAAGT |
€ 300,00 |
|
|
Hyperparathyroidism mehr |
CASR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 385,00 |
|
Hyperparathyroidism mehr |
CASR |
Multiplex Ligation-Dependent Probe Amplification; each of the 7 CASR exons |
2-4 Weeks |
€ 385,00 |
|
Hyperparathyroidism mehr |
CASR |
Carrier testing |
2 Weeks |
€ 180,00 |
|
HYPERPARATHYROIDISM 1, HRPT1 mehr |
HRPT2 (PARAFIBROMIN) |
Exons 1-7 (Majority of Mutations) |
€ 1020,00 |
|
|
HYPERPARATHYROIDISM 1, HRPT1 mehr |
HRPT2 (PARAFIBROMIN) |
Exons 8-17 |
€ 1320,00 |
|
|
HYPERPARATHYROIDISM 2, HRPT2 mehr |
HRPT2 (PARAFIBROMIN) |
Exons 1-7 (Majority of Mutations) |
€ 1020,00 |
|
|
HYPERPARATHYROIDISM 2, HRPT2 mehr |
HRPT2 (PARAFIBROMIN) |
Exons 8-17 |
€ 1320,00 |
|
|
Hyperphosphaturia mehr |
FGF23 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 180,00 |
|
Hyperphosphaturia mehr |
FGF23 |
Multiplex Ligation-Dependent Probe Amplification; each of the exons of the FGF23 |
2-4 Weeks |
€ 385,00 |
|
Hyperphosphaturia mehr |
FGF23 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hyperphosphaturia mehr |
PHEX |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1170,00 |
|
Hyperphosphaturia mehr |
PHEX |
Multiplex Ligation-Dependent Probe Amplification; each of the exons of the PHEX |
2-4 Weeks |
€ 385,00 |
|
Hyperphosphaturia mehr |
PHEX |
Carrier testing |
2 Weeks |
€ 180,00 |
|
HYPERPROINSULINEMIA mehr |
INS (INSULIN, PROINSULIN) |
Sequencing |
€ 420,00 |
|
|
HYPERPRORENINEMIA, FAMILIAL mehr |
REN (RENIN) |
Sequencing |
€ 1560,00 |
|
|
Hypertension mehr |
ACE |
Fragment analysis |
2-4 Weeks |
€ 80,00 |
|
HYPERTENSION mehr |
NOS3 (ENOS, ENDOTHELIAL NITROGEN - MONOXIDE SYNTHASE 3) |
G894T (E298D) |
€ 144,00 |
|
|
HYPERTENSION, EARLY-ONSET (AUTOSOMAL DOMINANT) mehr |
NR3C2 (MINERALOCORTICOID RECEPTOR, MLR, MCR, MR, ALDOSTERONE RECEPTOR) |
Sequencing |
€ 720,00 |
|
|
HYPERTHYROIDISM mehr |
TSHR (THYROID-STIMULATING HORMONE RECEPTOR) |
Sequencing |
€ 600,00 |
|
|
HYPERTROPHIC CARDIOMIOPATHY (HCM) mehr |
Myosin-binding protein C (MYBPC3), Regulatory and Essential light chains (MYL2, MYL3), Myosin heavy chain (MYH7), Actin (ACTC), Tropomyosin 1 (TPM1), Troponin I (TNNI3), Troponin C (TNNC1), Troponin T (TNNT2), Caveolin 3 (CAV3), Noncatalytic AMP-activated |
17 HCM genes with a detection rate of at least 60% in HCM |
€ 3360,00 |
|
|
Hypertrophic Cardiomyopathy mehr |
Sequencing of 23 genes: MYH7,TNNT2, TPM1, MYBPC3, PRKAG2, TNNI3, MYL3, TTN, MYL2, ACTC1, CSRP3, TNNC1, MYH6, VCL, CAV3, SLC25A4, TCAP,MIOZ2, MYLK2, LDB3, ACTN2, PLN, JPH2 |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 2900,00 |
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL mehr |
ACTC1, MYL2, MYL3 |
19 Exons |
€ 1320,00 |
|
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL mehr |
MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
Complete sequencing of all 17 genes involved in HCM |
€ 3360,00 |
|
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1 mehr |
ACTC1 (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH MUSCLE ACTIN) |
See also ACTC1, MYL2 and MYL3 |
€ 660,00 |
|
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1 mehr |
MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
€ 1440,00 |
|
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 10, CMH10 mehr |
MYL2 (MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW) |
See also Next Generation Sequencing Platforms |
€ 786,00 |
|
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 2, CMH2 mehr |
TNNT2 (TROPONIN T2, CARDIAC) |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
€ 720,00 |
|
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 3, CMH3 mehr |
TPM1 (TROPOMYOSIN 1) |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
€ 540,00 |
|
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 4A, CMD4A mehr |
MYBPC3 (MYOSIN-BINDING PROTEIN C, CARDIAC) |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
€ 1320,00 |
|
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 7, CMH7 mehr |
TNNI3 (TROPONIN I, CARDIAC) |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
€ 480,00 |
|
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 8, CMH8 mehr |
MYL3 (MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW, ESSENTIAL LIGHT CHAIN OF MYOSIN) |
See also Next Generation Sequencing Platforms |
€ 660,00 |
|
|
HYPO-ALPHALIPOPROTEINEMIA mehr |
APOA1 (APOLIPOPROTEIN A-1) |
L178P Mutation |
€ 360,00 |
|
|
HYPOBETALIPOPROTEINEMIA, FAMILIAL mehr |
APOB (APOLIPOPROTEIN B, APOB100, APOB48) |
Whole Gene |
3 Weeks |
€ 3366,00 |
|
HYPOCALCEMIA (AUTOSOMAL DOMINANT) mehr |
CASR (CALCIUM-SENSING RECEPTOR, PCAR1) |
Deletion-Duplication |
€ 420,00 |
|
|
HYPOCALCEMIA (AUTOSOMAL DOMINANT) mehr |
CASR (CALCIUM-SENSING RECEPTOR, PCAR1) |
Whole Gene |
€ 660,00 |
|
|
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 1 mehr |
CASR (CALCIUM-SENSING RECEPTOR, PCAR1) |
Deletion-Duplication |
€ 420,00 |
|
|
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 1 mehr |
CASR (CALCIUM-SENSING RECEPTOR, PCAR1) |
Whole Gene |
€ 660,00 |
|
|
HYPOCHONDROGENESIS mehr |
COL2A1 |
Sequencing |
€ 1500,00 |
|
|
Hypochondroplasia mehr |
FGFR |
Complete sequencing of the exons 11 and 13 of the FGFR gene |
3 Weeks |
€ 313,00 |
|
HYPOCHONDROPLASIA mehr |
FGFR3 |
7 Mutations: I538V, N540T, N540S, N540K, K650N, K650M, K650Q |
€ 480,00 |
|
|
HYPOCHONDROPLASIA mehr |
FGFR3 |
7 Mutations: S84L, R200C, N262H, G268C, Y278C, S279C, V381E |
€ 480,00 |
|
|
Hypochondroplasia (HCH) mehr |
FGFR3 |
Sequencing |
3 Weeks |
€ 880,00 |
|
HYPODONTIA/OLIGODONTIA, TYPE 3 mehr |
PAX9 (PAIRED BOX GENE 9) |
Sequencing |
€ 360,00 |
|
|
HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE) mehr |
EDAR (ECTODYSPLASIN 1) |
Sequencing |
€ 1080,00 |
|
|
HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE) mehr |
EDARADD (EDAR-ASSOCIATED DEATH DOMAIN) |
Sequencing |
€ 900,00 |
|
|
HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY mehr |
IKBKG (NEMO) |
1 Mutation: Exon 4-10 Deletion |
€ 540,00 |
|
|
HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY mehr |
IKBKG (NEMO) |
Whole Gene |
€ 1080,00 |
|
|
Hypokalemic periodic paralysis (HOKPP) mehr |
CACNA1S,SCN4A |
Sequencing of selected exons |
3 Weeks |
€ 550,00 |
|
HYPOKALEMIC PERIODIC PARALYSIS, HOKPP mehr |
CACNA1S (CACNL1A3) |
Exons 11 and 30, including the R528H, R1239H and R1239G Mutations |
€ 420,00 |
|
|
HYPOKALEMIC PERIODIC PARALYSIS, HOKPP mehr |
KCNE3 (POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3) |
Sequencing |
€ 420,00 |
|
|
HYPOKALEMIC PERIODIC PARALYSIS, HOKPP mehr |
SCN4A |
Exons 9, 12-14, 19, 21-24 |
€ 1080,00 |
|
|
HYPOKALEMIC PERIODIC PARALYSIS, HOKPP mehr |
SCN4A and CACNA1S (CACNL1A3) |
4 Mutations in CACNA1S: R528G, R528H, R1239H, R1239G and 5 Mutations in SCN4A: R672S, R672H, R672G, R672C, R669H |
€ 840,00 |
|
|
Hypomagnesemia mehr |
EGFR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Hypomagnesemia mehr |
EGFR |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hypomagnesemia mehr |
CLDN16 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
Hypomagnesemia mehr |
CLDN16 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hypomagnesemia mehr |
CLDN19 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
Hypomagnesemia mehr |
CLDN19 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Hypomagnesemia mehr |
TRPM6 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1430,00 |
|
Hypomagnesemia mehr |
FXYD2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
Hypomagnesemia mehr |
FXYD2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA mehr |
MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE) |
Sequencing |
€ 1020,00 |
|
|
HYPOMAGNESEMIA, RENAL, TYPE 4 mehr |
EGF (EPIDERMAL GROWTH FACTOR, UROGASTRONE) |
Sequencing |
€ 1680,00 |
|
|
HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT mehr |
CLDN19 (CLAUDIN 19) |
Sequencing |
€ 450,00 |
|
|
Hypoparathyroidism mehr |
CASR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 385,00 |
|
Hypoparathyroidism mehr |
CASR |
Multiplex Ligation-Dependent Probe Amplification; each of the 7 CASR exons. |
2-4 Weeks |
€ 385,00 |
|
Hypoparathyroidism mehr |
CASR |
Carrier testing |
2 Weeks |
€ 180,00 |
|
HYPOPARATHYROIDISM, FAMILIAL ISOLATED mehr |
CASR (CALCIUM-SENSING RECEPTOR, PCAR1) |
Deletion-Duplication |
€ 420,00 |
|
|
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME mehr |
TBCE (TUBULIN-SPECIFIC CHAPERONE E) |
12 bp Deletion in Exon 2 |
€ 240,00 |
|
|
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME mehr |
TBCE (TUBULIN-SPECIFIC CHAPERONE E) |
Whole Gene |
€ 1140,00 |
|
|
HYPOPHOSPHATEMIC RICKETS mehr |
PHEX |
Sequencing |
4 Weeks |
€ 1650,00 |
|
HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL DOMINANT) mehr |
FGF23 (FIBROBLAST GROWTH FACTOR 23) |
Deletion-Duplication |
€ 420,00 |
|
|
HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL RECESSIVE) mehr |
DMP1 (DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1) |
Sequencing |
€ 1200,00 |
|
|
HYPOPHOSPHATEMIC RICKETS (X-LINKED) mehr |
PHEX |
Deletion-Duplication |
€ 420,00 |
|
|
Hypophosphatemic rickets with hypercalciuria, hereditary; hhrh mehr |
SLC34A3 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
HYPOPLASTIC GLOMERULOCYSTIC KIDNEY DISEASE mehr |
HNF1B (HNF2, TCF2) |
Sequencing |
€ 720,00 |
|
|
Hypoplastic left heart syndrome mehr |
GJA1 |
Complete sequencing of GJA1 gene |
8-10 weeks |
€ 298,00 |
|
HYPOSPADIAS (X-LINKED) mehr |
AR (ANDROGEN RECEPTOR) |
Whole Gene |
€ 594,00 |
|
|
HYPOTHYROIDISM mehr |
TSHR (THYROID-STIMULATING HORMONE RECEPTOR) |
Sequencing |
€ 600,00 |
|
|
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, TYPE 2 mehr |
PAX8 (PAIRED BOX GENE 8) |
Sequencing |
€ 1200,00 |
|
|
|
|
|
|
|
ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL mehr |
KRT1 and KRT10 (KERATIN 1 and KERATIN 10) |
Hotspots |
€ 960,00 |
|
|
ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL mehr |
KRT1 (KERATIN 1) |
Hotspots |
€ 480,00 |
|
|
ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL mehr |
KRT1 (KERATIN 1) |
Whole Gene |
€ 1200,00 |
|
|
ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL mehr |
KRT10 (KERATIN 10) |
Hotspots |
€ 480,00 |
|
|
ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL mehr |
KRT10 (KERATIN 10) |
Whole Gene |
€ 1200,00 |
|
|
ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL mehr |
KRT2E (KERATIN 2E) |
Sequencing |
€ 1200,00 |
|
|
ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL mehr |
ALOX12B (ARACHIDONATE 12-LIPOXYGENASE, R TYPE, 12R-@LIPOXYGENASE) |
Sequencing |
€ 1920,00 |
|
|
ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL mehr |
ALOXE3 (ARACHIDONATE LIPOXYGENASE 3,LIPOXYGENASE TYPE 3) |
Sequencing |
€ 1920,00 |
|
|
ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL mehr |
TGM1 (TRANSGLUTAMINASE) |
Sequencing |
€ 1680,00 |
|
|
ICHTHYOSIS (X-LINKED) mehr |
STS (STEROID SULFATASE; ARYLSULFATASE C; ARSC) |
Deletion-Duplication |
€ 480,00 |
|
|
ICHTHYOSIS (X-LINKED) mehr |
STS (STEROID SULFATASE; ARYLSULFATASE C; ARSC) |
Whole Gene |
€ 1320,00 |
|
|
ICHTHYOSIS BULLOSA (SIEMENS) mehr |
KRT1 and KRT10 (KERATIN 1 and KERATIN 10) |
Hotspots |
€ 960,00 |
|
|
ICHTHYOSIS BULLOSA (SIEMENS) mehr |
KRT1 (KERATIN 1) |
Hotspots |
€ 480,00 |
|
|
ICHTHYOSIS BULLOSA (SIEMENS) mehr |
KRT1 (KERATIN 1) |
Whole Gene |
€ 1200,00 |
|
|
ICHTHYOSIS BULLOSA (SIEMENS) mehr |
KRT10 (KERATIN 10) |
Hotspots |
€ 480,00 |
|
|
ICHTHYOSIS BULLOSA (SIEMENS) mehr |
KRT10 (KERATIN 10) |
Whole Gene |
€ 1200,00 |
|
|
ICHTHYOSIS BULLOSA (SIEMENS) mehr |
KRT2E (KERATIN 2E) |
Sequencing |
€ 1200,00 |
|
|
ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE mehr |
ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12) |
Whole Gene |
€ 5880,00 |
|
|
ICHTHYOSIS VULGARIS mehr |
FLG (FILAGGRIN, PROFILAGGRIN) |
2 Common Mutations: c.2282delCAGT and c.1501C>T (p.Arg501X ) |
€ 300,00 |
|
|
ICHTHYOSIS VULGARIS mehr |
FLG (FILAGGRIN, PROFILAGGRIN) |
7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X |
€ 960,00 |
|
|
ICHTHYOSIS, CONGENITAL (AUTOSOMAL RECESSIVE), ICHTHYIN-RELATED mehr |
ICHTHYIN (ICHYN) |
Sequencing |
€ 1080,00 |
|
|
ICHTHYOSIS, LAMELLAR, 2, LI2 mehr |
ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12) |
5 Exons: Exons 28-32 |
€ 840,00 |
|
|
IDIOPATHIC HYPEREOSINOPHILIC SYNDROME mehr |
FIP1L1/PDGFRA |
FUSION OF FIP1L1 WITH PDGFRA (GLEEVEC/IMATINIB RESPONSIVENESS) |
€ 360,00 |
|
|
IDIOPATHIC VENTRICULAR FIBRILLATION mehr |
SCN5A |
See also LONG QT PANEL 1, 2 and 3 |
€ 3360,00 |
|
|
IGHMBP2 (IMMUNOGLOBULIN MU BINDING PROTEIN 2, CARDIAC TRANSCRIPTION FACTOR 1, CATF1) mehr |
IGHMBP2 (IMMUNOGLOBULIN MU BINDING PROTEIN 2, CARDIAC TRANSCRIPTION FACTOR 1, CATF1) |
Sequencing |
€ 2280,00 |
|
|
IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON mehr |
CD3E (CD3 ANTIGEN, EPSILON SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, EPSILON SUBUNIT OF T3) |
Sequencing |
€ 960,00 |
|
|
IMMUNODEFICIENCY WITH HYPER-IgM mehr |
AICDA, CD40, CD40LG, UNG |
Sequencing |
€ 3480,00 |
|
|
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1, HIGM1 mehr |
TNFSF5 (TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5, CD40 LIGAND, TRAP, GP39) |
Sequencing |
€ 672,00 |
|
|
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 mehr |
AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE, AID) |
Sequencing |
€ 1920,00 |
|
|
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3 mehr |
CD40 (CD40 ANTIGEN, B CELL-ASSOCIATED MOLECULE CD40 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5, TNFRSF5) |
Sequencing |
€ 1200,00 |
|
|
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5 mehr |
UNG (URACIL-DNA GLYCOSYLASE) |
Sequencing |
€ 1200,00 |
|
|
IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX mehr |
FOXP3 (FORKHEAD BOX P3, SCURFIN) |
Sequencing |
€ 1800,00 |
|
|
IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE mehr |
SMARCAL1 (SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A-LIKE PROTEIN 1) |
Sequencing |
€ 2400,00 |
|
|
INCLUSION BODY MYOPATHY 2 (AUTOSOMAL RECESSIVE), IBM2 mehr |
GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE) |
1 Mutation: M712T |
€ 480,00 |
|
|
INCLUSION BODY MYOPATHY 2 (AUTOSOMAL RECESSIVE), IBM2 mehr |
GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE) |
Whole Gene |
€ 900,00 |
|
|
Incontinentia pigmenti mehr |
IKBKG |
Detection of the deletion in IKBKG gene |
5 weeks |
€ 393,00 |
|
Incontinentia pigmenti mehr |
- |
Chromosome X inactivation analysis |
5 weeks |
€ 529,10 |
|
INDIFFERENCE TO PAIN, CONGENITAL (AUTOSOMAL RECESSIVE) mehr |
SCN9A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT) |
Sequencing |
€ 1080,00 |
|
|
Infantile Bartter syndrome with deafness type 4 mehr |
BSND |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 230,00 |
|
Infantile Bartter syndrome with deafness type 4 mehr |
BSND |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Infantile Bartter syndrome with deafness type 4 mehr |
CLCNKA |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1045,00 |
|
Infantile Bartter syndrome with deafness type 4 mehr |
CLCNKA |
Multiplex Ligation-Dependent Probe Amplification; Ex:5 and Ex.10 |
2-4 Weeks |
€ 385,00 |
|
Infantile Bartter syndrome with deafness type 4 mehr |
CLCNKA |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Infantile Bartter syndrome with deafness type 4 mehr |
CLCNKB |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1100,00 |
|
Infantile Bartter syndrome with deafness type 4 mehr |
CLCNKB |
Multiplex Ligation-Dependent Probe Amplification;(14 Exons: Ex 1,2,3,5,6,8,10,11,13,14,15,17,18,19) |
2-4 Weeks |
€ 385,00 |
|
Infantile Bartter syndrome with deafness type 4 mehr |
CLCNKB |
Carrier testing |
2 Weeks |
€ 180,00 |
|
INFANTILE SIALIC ACID STORAGE DISORDER mehr |
SLC17A5 |
Sequencing |
€ 696,00 |
|
|
INFANTILE SPASMS (X-LINKED), ISS X mehr |
ARX |
See also Mental Retardation (MRX) Panel |
€ 720,00 |
|
|
INFANTILE SPASMS (X-LINKED), ISS X mehr |
CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9) |
Sequencing |
€ 1440,00 |
|
|
Infantile-Onset Spinocerebellar Ataxia mehr |
C10ORF2 |
Sequencing |
4 Weeks |
€ 770,00 |
|
INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA mehr |
NTRK1 |
Sequencing |
€ 1500,00 |
|
|
INSOMNIA-DYSAUTONOMIA mehr |
PRNP (PRION PROTEIN) |
Sequencing |
€ 360,00 |
|
|
INSULIN RESISTANCE mehr |
INSR (INSULIN RECEPTOR) |
Sequencing |
€ 2880,00 |
|
|
INTRACTABLE CHILDHOOD EPILEPSY WITH GENERALISED TONIC-CLONIC SEIZURES (ICEGTC) mehr |
SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) |
Whole Gene and Deletions-Duplications |
€ 2184,00 |
|
|
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, TYPE 1, IPD1 mehr |
IRAK4 (INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4 |
Sequencing |
€ 1560,00 |
|
|
IRAK4 DEFICIENCY mehr |
IRAK4 (INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4 |
Sequencing |
€ 1560,00 |
|
|
IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 mehr |
FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) |
Deletion-Duplication |
€ 600,00 |
|
|
IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 mehr |
FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) |
Whole Gene Sequencing |
€ 660,00 |
|
|
IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 mehr |
PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2, PTX2) |
Deletion-Duplication Testing |
€ 600,00 |
|
|
IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2 mehr |
PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2, PTX2) |
Whole Gene Sequencing |
€ 720,00 |
|
|
ISOBUTYRYL GLYCINURIA mehr |
ACAD8 (ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8) |
Sequencing |
€ 1020,00 |
|
|
ISOLATION OF DNA FROM BLOOD mehr |
ISOLATION OF DNA FROM BLOOD |
Sequencing |
€ 60,00 |
|
|
ISOVALERIC ACIDEMIA mehr |
IVD (ISOVALERYL-CoA DEHYDROGENASE) |
Sequencing |
€ 1200,00 |
|
|
|
|
|
|
|
JACKSON-LAWLER DISEASE mehr |
KRT17 (KERATIN 17) |
Sequencing |
€ 1200,00 |
|
|
JACKSON-LAWLER DISEASE mehr |
KRT6B (KERATIN 6B) |
Sequencing |
€ 1200,00 |
|
|
JACKSON-WEISS SYNDROME mehr |
FGFR1 |
Sequencing |
€ 600,00 |
|
|
Jackson-Weiss syndrome (JWS) mehr |
FGFR2 |
Sequencing |
3 Weeks |
€ 600,00 |
|
JADASSOHN-LEWANDOWSKY SYNDROME mehr |
KRT16 (KERATIN 16) |
Sequencing |
€ 1200,00 |
|
|
JADASSOHN-LEWANDOWSKY SYNDROME mehr |
KRT6A (KERATIN 6A) |
Sequencing |
€ 1200,00 |
|
|
JENSEN SYNDROME mehr |
TIMM8A (TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, A; DEAFNESS/DYSTONIA PEPTIDE 1; DDP1) |
Sequencing |
€ 480,00 |
|
|
JERVELL AND LANGE-NIELSEN SYNDROME, JLNS1 mehr |
KCNE1 (MINK, ISK) |
Sequencing |
€ 180,00 |
|
|
JERVELL AND LANGE-NIELSEN SYNDROME, JLNS1 mehr |
KCNQ1 (KVLQT1) |
See also LONG QT PANEL 1, 2 and 3 |
€ 1896,00 |
|
|
JOHANSON-BLIZZARD SYNDROME mehr |
UBR1 (UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1) |
Sequencing |
€ 240,00 |
|
|
Joubert Syndrome 5 mehr |
CEP290 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1430,00 |
|
Joubert Syndrome 5 mehr |
CEP290 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
JOUBERT SYNDROME, TYPE 3 mehr |
AHI1 (ABELSON HELPER INTEGRATION SITE 1, JOUBERIN) |
Sequencing |
€ 3120,00 |
|
|
JOUBERT SYNDROME, TYPE 4 mehr |
NPHP1 (NEPHROCYSTIN 1) |
Sequencing |
€ 1440,00 |
|
|
JOUBERT SYNDROME, TYPE 6 mehr |
MKS3 (MECKELIN, TMEM67, TRANSMEMBRANE PROTEIN 67) |
Sequencing |
€ 3120,00 |
|
|
JOUBERT SYNDROME, TYPE 7 mehr |
RPGRIP1L (RPGRIP1-LIKE) |
Sequencing |
€ 3120,00 |
|
|
JOUBERT SYNDROME, TYPE 8 mehr |
ARL13B (ADP-RIBOSYLATION FACTOR-LIKE 13B, ARL2-LIKE PROTEIN 1) |
Sequencing |
€ 1560,00 |
|
|
JUBERG-MARSIDI SYNDROME mehr |
ATRX (XNP) |
Sequencing |
€ 1800,00 |
|
|
JUVENILE MYELOMONOCYTIC LEUKEMIA, JMML mehr |
PTPN11 |
Exons 3 and 13 |
€ 360,00 |
|
|
JUVENILE POLYPOSIS SYNDROME mehr |
BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3) |
Sequencing |
€ 2520,00 |
|
|
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME mehr |
SMAD4 (DPC4) |
Sequencing |
€ 1140,00 |
|
|
|
|
|
|
|
Kallmann syndrome 1 (KAL1) mehr |
KAL1 |
Sequencing |
5 Weeks |
€ 1320,00 |
|
Kallmann syndrome 2 (KAL2) mehr |
FGFR1 |
Sequencing |
3 Weeks |
€ 1100,00 |
|
Kallmann syndrome 3 (KAL3) mehr |
PROKR2 |
Sequencing |
3 Weeks |
€ 230,00 |
|
Kallmann syndrome 4 (KAL4) mehr |
PROK2 |
Sequencing |
3 Weeks |
€ 385,00 |
|
KALLMANN, KAL1 mehr |
Xp22.3 / Xp11.1-q11.1 deletion |
Sequencing |
€ 480,00 |
|
|
KALLMANN, KAL2 mehr |
8p11.2 deletion |
Sequencing |
€ 480,00 |
|
|
KARAK SYNDROME mehr |
PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) |
Sequencing |
€ 2280,00 |
|
|
KARTAGENER SYNDROME mehr |
DNAH5 (DYNEIN, AXONEMAL, HEAVY CHAIN 5) |
All 61 known Mutations in DNAH5 and DNAI1 |
€ 960,00 |
|
|
KARTAGENER SYNDROME mehr |
DNAI1 (DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1) |
All 61 known Mutations in DNAH5 and DNAI1 |
€ 960,00 |
|
|
KCNC3 (POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 3) mehr |
KCNC3 (POTASSIUM CHANNEL, VOLTAGE-GATED, SHAW-RELATED SUBFAMILY, MEMBER 3) |
Sequencing |
€ 1080,00 |
|
|
Kearns-Sayre syndrome (KSS) mehr |
mit |
Deletions (MLPA) |
3 Weeks |
€ 230,00 |
|
KEARNS-SAYRE SYNDROME (KSS) mehr |
4977 bp Deletion |
Sequencing |
€ 360,00 |
|
|
KEARNS-SAYRE SYNDROME (KSS) mehr |
MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Sequencing |
€ 1020,00 |
|
|
Kennedy-Disease (spinal bulbar muscular atrophy mehr |
SBMA;AR-gene |
CAG-repeat in exon 1 |
1 Week |
€ 216,00 |
|
KENNY-CAFFEY SYNDROME, TYPE 1, KCS1 (AUTOSOMAL RECESSIVE) mehr |
TBCE (TUBULIN-SPECIFIC CHAPERONE E) |
12 bp Deletion in Exon 2 |
€ 240,00 |
|
|
KENNY-CAFFEY SYNDROME, TYPE 1, KCS1 (AUTOSOMAL RECESSIVE) mehr |
TBCE (TUBULIN-SPECIFIC CHAPERONE E) |
Whole Gene |
€ 1140,00 |
|
|
KERATITIS-ICHTHYOSIS-DEAFNESS mehr |
GJB2 (CONNEXIN 26, CX26) |
Sequencing |
€ 240,00 |
|
|
KERATITIS mehr |
PAX6 (PAIRED BOX GENE 6) |
Whole Gene and Deletion Analysis (MLPA) |
€ 1320,00 |
|
|
KERATOCONUS 1, KTCN1 mehr |
VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF) |
Sequencing |
€ 1020,00 |
|
|
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS mehr |
MTTS1 (TRANSFER RNA, MITOCHONDRIAL, SERINE, 1) |
Sequencing |
€ 1020,00 |
|
|
KERATOSIS PALMOPLANTARIS STRIATA, TYPE 2 mehr |
DSP (DESMOPLAKIN) |
See also PKP2, DSP, DSG2, DSC2 PANEL |
€ 600,00 |
|
|
KINDLER SYNDROME mehr |
KIND1 (KINDLIN 1) |
Sequencing |
€ 1800,00 |
|
|
KNIEST DYSPLASIA mehr |
COL2A1 |
Sequencing |
€ 1500,00 |
|
|
Kostmann syndrome mehr |
ELA2 |
Complete sequencing of ELA2 gene |
6 weeks |
€ 588,00 |
|
KRABBE DISEASE mehr |
GALC (GALACTOSYL CERAMIDASE, GALACTOCEREBROSIDASE) |
Sequencing |
€ 720,00 |
|
|
|
|
|
|
|
LACTASE DEFICIENCY mehr |
LCT (LACTASE) |
C13910T |
€ 192,00 |
|
|
LACTIC ACIDOSIS, FATAL INFANTILE mehr |
SUCLG1 (SUCCINATE-CoA LIGASE, ALPHA SUBUNIT; SUCCINATE-CoA LIGASE, ADP-FORMING, ALPHA SUBUNIT; SUCLA1) |
Sequencing |
€ 780,00 |
|
|
Lactose Intolerance mehr |
analysisofthepromotorpolymorphismoftheLPH-gene |
1 Week |
€ 90,00 |
|
|
LANGER MESOMELIC DYSPLASIA mehr |
SHOX (SHORT STATURE HOMEOBOX) |
MLPA for Deletions-Duplications of SHOX and PAR1 |
€ 660,00 |
|
|
LANGER MESOMELIC DYSPLASIA mehr |
SHOX (SHORT STATURE HOMEOBOX) |
Whole Gene |
€ 660,00 |
|
|
LANGER?GIEDION, LGS mehr |
8q24 deletion |
Sequencing |
€ 480,00 |
|
|
LARON SYNDROME mehr |
GHR |
Sequencing |
4 Weeks |
€ 1100,00 |
|
Larson syndrome mehr |
FLNB |
Sequencing |
4 Weeks |
€ 2280,00 |
|
Leber Congenital Amaurosis mehr |
CEP290 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1430,00 |
|
Leber Congenital Amaurosis mehr |
CEP290 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
LEBER CONGENITAL AMAUROSIS DUE TO DEFECT IN CRB1 mehr |
CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1) |
Sequencing |
€ 1530,00 |
|
|
LEBER CONGENITAL AMAUROSIS, RETINITIS PIGMENTOSA, CONE-ROD DYSTROPHY mehr |
CRB1, AIPL1, GUCY2D, CRX, RPE65, RPGRIP1, MERTK, LRAT, CEP290, RDH12 |
LEBER CHIP 436 positions |
€ 720,00 |
|
|
LEBER CONGENITAL AMAUROSIS, TYPE 1, LCA1 mehr |
GUCY2D (GUANYLATE CYCLASE 2D, MEMBRANE) |
Sequencing |
€ 1560,00 |
|
|
LEBER CONGENITAL AMAUROSIS, TYPE 1, LCA1 mehr |
RPGRIP1 (RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN, RPGR-INTERACTING PROTEIN) |
Sequencing |
€ 1080,00 |
|
|
LEBER CONGENITAL AMAUROSIS, TYPE 11, LCA11 mehr |
IMPDH1 (IMP DEHYDROGENASE 1;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE 1) |
Sequencing |
€ 840,00 |
|
|
LEBER CONGENITAL AMAUROSIS, TYPE 2, LCA2 mehr |
RPE65 (RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD) |
Sequencing |
€ 540,00 |
|
|
LEBER CONGENITAL AMAUROSIS, TYPE 3, LCA3 mehr |
RDH12 (RETINOL DEHYDROGENASE 12) |
Sequencing |
€ 684,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
12 common mutations accounting for > 95% of all LHON mutations: G11778A, T14484C, G3460A, C3275A, G3316A, T3394C, T4216C, G7444A, T9101C, G13708A, G14459A, G15257A |
Sequencing |
€ 780,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
3 common mutations accounting for ~90% of all LHON mutations: G11778A, T14484C, G3460A |
Sequencing |
3 Weeks |
€ 402,00 |
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
C3275A |
Sequencing |
€ 180,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
G11778A |
Sequencing |
€ 180,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
G13708A |
Sequencing |
€ 180,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
G14459A |
Sequencing |
€ 180,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
G15257A |
Sequencing |
€ 180,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
G3316A |
Sequencing |
€ 180,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
G3460A |
Sequencing |
€ 180,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
G7444A |
Sequencing |
€ 180,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
MTATP6 (ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6) |
Sequencing |
€ 576,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
MTCO1 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE 1; COX1) |
Sequencing |
€ 948,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
MTCO3 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 3, CYTOCHROME c OXIDASE 3; COX3) |
Sequencing |
€ 948,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
Sequencing |
€ 576,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1) |
Sequencing |
€ 1320,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
MTND2 (COMPLEX 1, SUBUNIT ND2, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND2NADH DEHYDROGENASE, SUBUNIT 2) |
Sequencing |
€ 1320,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
MTND4 (COMPLEX 1, SUBUNIT ND4, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4NADH DEHYDROGENASE, SUBUNIT 4) |
Sequencing |
€ 1320,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
MTND6 (COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6NADH DEHYDROGENASE, SUBUNIT 6) |
Sequencing |
€ 1320,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
T14484C |
Sequencing |
€ 180,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
T3394C |
Sequencing |
€ 180,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
T4216C |
Sequencing |
€ 180,00 |
|
|
LEBER HEREDITARY OPTIC NEUROPATHY (LHON) mehr |
T9101C |
Sequencing |
€ 180,00 |
|
|
Leber Optic Atrophie mehr |
mit |
Snapshot |
1 Week |
€ 440,00 |
|
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY mehr |
LCAT (LECITHIN:CHOLESTEROL ACYLTRANSFERASE) |
Sequencing |
€ 540,00 |
|
|
Leigh syndrome mehr |
mitochondrialDNA |
8993 T>G mutation |
1 Week |
€ 140,00 |
|
LEIGH SYNDROME mehr |
9537insC |
Sequencing |
€ 180,00 |
|
|
LEIGH SYNDROME mehr |
A13084T |
Sequencing |
€ 180,00 |
|
|
LEIGH SYNDROME mehr |
BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) |
Sequencing |
€ 720,00 |
|
|
LEIGH SYNDROME mehr |
C1177A |
Sequencing |
€ 180,00 |
|
|
LEIGH SYNDROME mehr |
C1624T |
Sequencing |
€ 180,00 |
|
|
LEIGH SYNDROME mehr |
COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10, HEME A:FARNESYLTRANSFERASE) |
Sequencing |
€ 780,00 |
|
|
LEIGH SYNDROME mehr |
COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15) |
Sequencing |
€ 1440,00 |
|
|
LEIGH SYNDROME mehr |
G13513A |
Sequencing |
€ 180,00 |
|
|
LEIGH SYNDROME mehr |
G13513A |
Sequencing |
€ 180,00 |
|
|
LEIGH SYNDROME mehr |
MTCO3 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 3, CYTOCHROME c OXIDASE 3; COX3) |
Sequencing |
€ 948,00 |
|
|
LEIGH SYNDROME mehr |
MTND3 (COMPLEX 1, SUBUNIT ND3, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND3NADH DEHYDROGENASE, SUBUNIT 3) |
Sequencing |
€ 1320,00 |
|
|
LEIGH SYNDROME mehr |
MTND5 (COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5NADH DEHYDROGENASE, SUBUNIT 5) |
Sequencing |
€ 1320,00 |
|
|
LEIGH SYNDROME mehr |
MTND6 (COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6NADH DEHYDROGENASE, SUBUNIT 6) |
Sequencing |
€ 1320,00 |
|
|
LEIGH SYNDROME mehr |
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
Sequencing |
€ 1020,00 |
|
|
LEIGH SYNDROME mehr |
MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Sequencing |
€ 1020,00 |
|
|
LEIGH SYNDROME mehr |
MTTV (TRANSFER RNA, MITOCHONDRIAL, VALINE) |
Sequencing |
€ 1020,00 |
|
|
LEIGH SYNDROME mehr |
MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN) |
Sequencing |
€ 1020,00 |
|
|
LEIGH SYNDROME mehr |
NDUFS1 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT) |
Sequencing |
€ 1440,00 |
|
|
LEIGH SYNDROME mehr |
NDUFS3 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3, NADH-COENZYME Q REDUCTASE, 30-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT) |
Sequencing |
€ 1440,00 |
|
|
LEIGH SYNDROME mehr |
NDUFS4 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4, NADH-COENZYME Q REDUCTASE, 18-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT, AQDQ) |
Sequencing |
€ 1440,00 |
|
|
LEIGH SYNDROME mehr |
NDUFS7 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7, NADH-COENZYME Q REDUCTASE, 20-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 20-KD SUBUNIT, PSST) |
Sequencing |
€ 1440,00 |
|
|
LEIGH SYNDROME mehr |
NDUFS8 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 23-KD SUBUNIT, TYKY) |
Sequencing |
€ 1440,00 |
|
|
LEIGH SYNDROME mehr |
NDUFV1 (NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT, UQOR1) |
Sequencing |
€ 1440,00 |
|
|
LEIGH SYNDROME mehr |
PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1) |
Sequencing |
€ 1200,00 |
|
|
LEIGH SYNDROME mehr |
SCO2 |
Sequencing |
€ 660,00 |
|
|
LEIGH SYNDROME mehr |
SDHA (SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN, SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2) |
Sequencing |
€ 1440,00 |
|
|
LEIGH SYNDROME mehr |
T8993C |
Sequencing |
€ 180,00 |
|
|
LEIGH SYNDROME mehr |
T8993G |
Sequencing |
€ 180,00 |
|
|
LEIGH SYNDROME mehr |
T9176C |
Sequencing |
€ 180,00 |
|
|
LEIGH SYNDROME mehr |
T9176G |
Sequencing |
€ 180,00 |
|
|
Leigh syndrome (LS) mehr |
SURF1 |
Sequencing |
4 Weeks |
€ 720,00 |
|
Leigh syndrome (LS) mehr |
MTATP6 |
Sequencing |
4 Weeks |
€ 330,00 |
|
Leigh syndrome (LS) mehr |
MTATP6 |
89933T-G/T mutation |
€ 219,00 |
|
|
Leopard syndrome mehr |
PTPN11 |
Detection of the Y279C, A461T, G464A and T468M mutations in the PTPN11 gene |
€ 462,00 |
|
|
LEOPARD syndrome 1 mehr |
PTPN11 |
Sequencing of selected exons |
3 Weeks |
€ 660,00 |
|
LEOPARD syndrome 1 mehr |
PTPN11 |
Sequencing |
3 Weeks |
€ 840,00 |
|
LEOPARD SYNDROME, TYPE 1 mehr |
RAF1 (V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1) |
Sequencing |
€ 2160,00 |
|
|
LEPRECHAUNISM mehr |
INSR (INSULIN RECEPTOR) |
Sequencing |
€ 2880,00 |
|
|
LERI-WEILL DYSCHONDROSTEOSIS mehr |
SHOX (SHORT STATURE HOMEOBOX) |
MLPA for Deletions-Duplications of SHOX and PAR1 |
€ 660,00 |
|
|
LERI-WEILL DYSCHONDROSTEOSIS mehr |
SHOX (SHORT STATURE HOMEOBOX) |
Whole Gene |
€ 496,00 |
|
|
LESCH - NYHAN SYNDROME, LNS mehr |
HPRT1 (HYPOXANTHINE GUANINE PHOSPHORIBOSYL TRANSFERASE 1, HGPRT) |
Sequencing |
€ 480,00 |
|
|
LEUKEMIA mehr |
PCM1 / JAK2 |
t(8;9)(p21-23;p23-24) Diagnostic |
€ 180,00 |
|
|
LEUKEMIA, ACUTE MYELOGENOUS mehr |
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) |
Sequencing |
€ 540,00 |
|
|
LEUKEMIA, ACUTE MYELOID, AML mehr |
CEBPA (CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; C/EBP-ALPHA) |
Sequencing |
€ 420,00 |
|
|
LEUKOCYTE ADHESION DEFICIENCY, TYPE 1, LAD mehr |
ITGB2 (INTEGRIN, BETA-2) |
Sequencing |
€ 2160,00 |
|
|
LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION mehr |
DARS2 (ASPARTYL-tRNA SYNTHETASE 2) |
Sequencing |
€ 1920,00 |
|
|
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER mehr |
EIF2B1 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1) |
Sequencing |
€ 624,00 |
|
|
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER mehr |
EIF2B2 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2) |
Sequencing |
€ 624,00 |
|
|
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER mehr |
EIF2B3 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3) |
Sequencing |
€ 624,00 |
|
|
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER mehr |
EIF2B4 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4) |
Sequencing |
€ 624,00 |
|
|
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER mehr |
EIF2B5 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5) |
Sequencing |
€ 624,00 |
|
|
LEWY BODY DEMENTIA mehr |
SNCA (ALPHA SYNUCLEIN) |
Deletions |
€ 540,00 |
|
|
LEWY BODY DEMENTIA mehr |
SNCA (ALPHA SYNUCLEIN) |
Whole Gene |
€ 540,00 |
|
|
LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM mehr |
LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR ) |
Sequencing |
€ 1200,00 |
|
|
LHON (Leber's Hereditary Optic Neuropathy Mitochondrial Myopathia) mehr |
mitochondrialDNA |
11778 G>A, 3460 G>A and 14484 T>A mutation |
1 Week |
€ 220,00 |
|
Li Fraumeni syndrome mehr |
p53 |
Complete sequencing of p53 gene |
6-8 weeks |
€ 420,00 |
|
LI-FRAUMENI SYNDROME 2 mehr |
CHEK2 (CHECKPOINT KINASE 2) |
Whole Gene |
€ 960,00 |
|
|
LI-FRAUMENI SYNDROME 1 mehr |
P53 (TP53) |
Exons 5-8 |
€ 300,00 |
|
|
Liddle syndrome mehr |
SCNN1B and SCNN1G |
Sequencing of exon 13 on SCNN1B and SCNN1G |
3 weeks |
€ 432,00 |
|
Liddle-Syndrom mehr |
SCNN1B |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 660,00 |
|
Liddle-Syndrom mehr |
SCNN1B |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Liddle-Syndrom mehr |
SCNN1G |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 660,00 |
|
Liddle-Syndrom mehr |
SCNN1G |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Liddle-Syndrom mehr |
NEDD4 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1430,00 |
|
LIMB-MAMMARY SYNDROME mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Deletion-Duplication |
€ 720,00 |
|
|
LIMB-MAMMARY SYNDROME mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Whole Gene |
€ 1800,00 |
|
|
LINKAGE ANALYSIS FOR ANY GENE mehr |
LINKAGE ANALYSIS FOR ANY GENE |
Sequencing |
€ 300,00 |
|
|
LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY AND LEUKOMELANODERMIC PAPU mehr |
LMNA (LAMIN A/C) |
Sequencing |
€ 840,00 |
|
|
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1 mehr |
AGPAT2 (1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2) |
Sequencing |
€ 660,00 |
|
|
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, FPLD2 mehr |
LMNA (LAMIN A/C) |
Sequencing |
€ 840,00 |
|
|
LIPOMA LEIOMYOMA mehr |
HMGIC |
12q |
€ 480,00 |
|
|
LISSENCEPHALY 1, LIS1 mehr |
PAFAH1B1 (LIS1) |
Deletions |
€ 420,00 |
|
|
LISSENCEPHALY 1, LIS1 mehr |
PAFAH1B1 (LIS1) |
Whole Gene |
€ 1320,00 |
|
|
LISSENCEPHALY WITH AMBIGUOUS GENITALIA (X-LINKED) mehr |
ARX |
See also Mental Retardation (MRX) Panel |
€ 720,00 |
|
|
Loeys-Dietz Syndrome mehr |
TGFBR2 |
Complete sequencing of the TGFBR2 gene |
6-8 weeks |
€ 600,00 |
|
LOEYS-DIETZ SYNDROME mehr |
TGFBR1 (TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE 1, ALK5) |
See also TGFBR1 and TGFBR2 |
€ 540,00 |
|
|
LOEYS-DIETZ SYNDROME mehr |
TGFBR1 and TGFBR2 |
Sequencing |
€ 1020,00 |
|
|
Long QT syndrome mehr |
KCNQ1, KCNH2, KCNE1, KCNE2, KCNJ2, SCN5A |
Screening mutations by sequencing of the KCNQ1, KCNH2, KCNE1 y KCNE2 y KCNJ2 genes and complete sequencing of SCN5A gene |
3 Weeks |
€ 674,00 |
|
LONG QT SYNDROME mehr |
LONG QT PANEL 1: KCNQ1, HERG |
9 Exons with Mutation Hotspots |
€ 1020,00 |
|
|
LONG QT SYNDROME mehr |
LONG QT PANEL 2: KCNQ1, HERG, SCN5A, KCNE1, KCNE2 |
20 Exons with Mutation Hotspots |
€ 2220,00 |
|
|
LONG QT SYNDROME mehr |
LONG QT PANEL 3: KCNQ1, HERG, SCN5A, KCNE1, KCNE2 |
All 65 Exons |
€ 6600,00 |
|
|
Long QT Syndrome mehr |
Sequencing of 12 genes: KCNQ, KCNE1, KCNE2, KCNH2, ANK2, SCN5A, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP9, SNTA1 |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 2900,00 |
|
LONG QT SYNDROME (LQT1-10) mehr |
KCNQ1 encoding KQT-like voltage-gated potassium channel 1 for LQT1, KCNH2 encoding Potassium channel, voltage-gated, H2 for LQT, SCN5A encoding Alpha polypeptide of voltage-gated sodium channel type V for LQT3, ANK2 encoding Ankyrin-B for LQT4, KCNE1 enco |
10 genes (LQT1-LQT10) |
€ 3360,00 |
|
|
LONG QT SYNDROME 1, LQT1 mehr |
KCNQ1 (KVLQT1) |
See also LONG QT PANEL 1, 2 and 3 |
€ 1896,00 |
|
|
LONG QT SYNDROME 2, LQT2 mehr |
HERG |
See also LONG QT PANEL 1, 2 and 3 |
€ 1680,00 |
|
|
LONG QT SYNDROME 3, LQT3 mehr |
SCN5A |
See also LONG QT PANEL 1, 2 and 3 |
€ 3360,00 |
|
|
LONG QT SYNDROME 5, LQT5 mehr |
KCNE1 (MINK, ISK) |
See also LONG QT PANEL 1, 2 and 3 |
€ 180,00 |
|
|
LONG QT SYNDROME 6, LQT6 mehr |
KCNE2 |
See also LONG QT PANEL 1, 2 and 3 |
€ 180,00 |
|
|
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY, LCHAD DEFICIENCY mehr |
HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT, LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE, LCHAD) |
2 Common Mutations: (1528G>C and 1132C>T) |
€ 360,00 |
|
|
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY, LCHAD DEFICIENCY mehr |
HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT, LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE, LCHAD) |
Whole Gene |
€ 1440,00 |
|
|
LOWE SYNDROME mehr |
OCRL1 |
Sequencing |
4 Weeks |
€ 718,00 |
|
LUJAN-FRYNS SYNDROME mehr |
UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF NONSENSE TRANSCRIPTS 3B) |
Sequencing |
€ 1800,00 |
|
|
LUNG CANCER, SQUAMOUS CELL mehr |
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) |
Sequencing |
€ 540,00 |
|
|
LYMPHEDEMA AND PTOSIS mehr |
FOXC2 (FORKHEAD BOX C2) |
Sequencing |
€ 600,00 |
|
|
LYMPHEDEMA, HEREDITARY, TYPE 1 mehr |
FLT4 (FMS-LIKE TYROSINE KINASE 4, VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 3, VEGFR3) |
10 Exons: Exons 17-26, representing 90% of reported mutations |
€ 960,00 |
|
|
LYMPHEDEMA, HEREDITARY, TYPE 2 mehr |
FOXC2 (FORKHEAD BOX C2) |
Sequencing |
€ 600,00 |
|
|
LYMPHEDEMA-DISTICHIASIS SYNDROME mehr |
FOXC2 (FORKHEAD BOX C2) |
Sequencing |
€ 600,00 |
|
|
LYMPHOMA mehr |
BCL-2 / JH |
t(14;18)(p32;q21) Diagnostic |
€ 360,00 |
|
|
LYMPHOMA mehr |
BCL-2 / JH |
t(14;18)(p32;q21) Follow-up |
€ 360,00 |
|
|
LYMPHOMA mehr |
cyclinD1 overexpression |
Diagnostic |
€ 360,00 |
|
|
LYMPHOMA OR ACUTE LEUKEMIA mehr |
IgH gene rearrangement ( FR2, FR3 ) |
Diagnostic |
€ 480,00 |
|
|
LYMPHOMA OR ACUTE LEUKEMIA mehr |
TCR Gamma gene rearrangement ( J, JP ) |
Diagnostic |
€ 480,00 |
|
|
LYMPHOMA, NON-HODGKIN mehr |
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) |
Sequencing |
€ 1200,00 |
|
|
LYMPHOPROLIFERATIVE SYNDROME mehr |
SH2D1A |
Sequencing |
€ 396,00 |
|
|
LYSINURIC PROTEIN INTOLERANCE mehr |
SLC7A7 (SOLUTE CARRIER FAMILY 7, MEMBER 7) |
Sequencing |
€ 720,00 |
|
|
|
|
|
|
|
M-FISH mehr |
All Chromosomes |
Sequencing |
€ 1200,00 |
|
|
MACROCEPHALY-AUTISM SYNDROME mehr |
PTEN |
Whole Gene and Deletions-Duplications |
€ 2040,00 |
|
|
MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF mehr |
CFB (COMPLEMENT FACTOR B;PROPERDIN FACTOR B; FACTOR B; C3 PROACTIVATOR; GLYCINE-RICH BETA-GLYCOPROTEIN) |
Sequencing |
€ 1320,00 |
|
|
Macular degeneration, age-related, susceptibility to mehr |
ComplementfactorH;CFH-gene |
Y402H polymorphism |
1 Day - 2 Weeks |
€ 90,00 |
|
MACULAR DEGENERATION, AGE-RELATED, TYPE 9, SUSCEPTIBILITY TO mehr |
C3 (COMPLEMENT COMPONENT 3) |
Sequencing |
€ 1800,00 |
|
|
MACULAR DYSTROPHY mehr |
PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) |
Sequencing |
€ 480,00 |
|
|
MACULAR DYSTROPHY, CONCENTRIC ANNULAR mehr |
VMD2 (VITELLIFORM MACULAR DYSTROPHY GENE 2, BESTROPHIN) |
Sequencing |
€ 1140,00 |
|
|
MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET mehr |
PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) |
Sequencing |
€ 480,00 |
|
|
MACULAR DYSTROPHY, VITELLIFORM, VMD mehr |
VMD2 (VITELLIFORM MACULAR DYSTROPHY GENE 2, BESTROPHIN) |
Sequencing |
€ 1140,00 |
|
|
Male Infertility mehr |
CFTR-Gene |
Detection of the poly-T polymorphism, associated to male infertility |
3 Weeks |
€ 192,00 |
|
Male infertility mehr |
Y chromosome |
Detection of deletions in regions AZFa, AZFb, AZFc of the Y chromosome, associated to male infertility |
3 Weeks |
€ 150,00 |
|
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1, MHS1 mehr |
RYR1 (RYANODINE RECEPTOR 1) |
41 Exons: Exons 2, 3, 6, 8-15, 17, 34, 38-40, 42-48, 51, 52, 67, 71, 73, 85, 86, 90, 94, 95, 97, 98-104 |
€ 2160,00 |
|
|
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5, MHS5 mehr |
CACNA1S (CACNL1A3) |
Exons 11 and 30, including the R528H, R1239H and R1239G Mutations |
€ 420,00 |
|
|
MALIGNANT MELANOMA WITH NEURAL CELL TUMORS mehr |
P16 (CDKN2) |
Sequencing |
€ 456,00 |
|
|
MALIGNANT MELANOMA, CMM3 mehr |
CDK4 |
Exon 2 |
€ 300,00 |
|
|
MALIGNANT MELANOMA, CMM3 mehr |
CDK4 |
Whole Gene |
€ 960,00 |
|
|
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, MADA mehr |
LMNA (LAMIN A/C) |
Sequencing |
€ 840,00 |
|
|
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY mehr |
ZMPSTE24 (ZINC METALLOPROTEINASE STE24) |
Sequencing |
€ 1560,00 |
|
|
MANNOSE-BINDING PROTEIN DEFICIENCY mehr |
MBL2 (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, MANNAN-BINDING PROTEIN, COLLECTIN 1) |
5 Mutations: ARG52CYS, GLY54ASP, GLY57GLU, -550G>C and -221G>C |
€ 300,00 |
|
|
Mannose-binding protein deficiency (MBL2) mehr |
MBL2 |
Sequencing |
3 Weeks |
€ 440,00 |
|
MANNOSIDOSIS, BETA A, LYSOSOMAL mehr |
MANBA (MANNOSIDASE, BETA A, LYSOSOMAL) |
Sequencing |
€ 2040,00 |
|
|
MANTLE CELL LYMPHOMA , MCL mehr |
IgH / CCND1 |
t(11;14) |
€ 480,00 |
|
|
MANTLE CELL LYMPHOMA , MCL mehr |
MALT1 |
t(11;18) and t(14;18) |
€ 480,00 |
|
|
MAPLE SYRUP URINE DISEASE mehr |
BCKDHA (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE) |
Sequencing |
€ 1200,00 |
|
|
MAPLE SYRUP URINE DISEASE mehr |
BCKDHB (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE) |
Sequencing |
€ 1140,00 |
|
|
MAPLE SYRUP URINE DISEASE mehr |
DBT (DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; BRANCHED-CHAIN ACYLTRANSFERASE, E2 COMPONENT) |
Deletions-Duplications |
€ 720,00 |
|
|
MAPLE SYRUP URINE DISEASE mehr |
DBT (DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; BRANCHED-CHAIN ACYLTRANSFERASE, E2 COMPONENT) |
Whole Gene |
€ 1560,00 |
|
|
Marfan syndrome mehr |
FBN1-gene |
Sequencing |
2-3 Weeks |
€ 3300,00 |
|
Marfan syndrome mehr |
FBN1-gene |
MLPA-analysis |
2-3 Weeks |
€ 737,00 |
|
Marfan syndrome (MFS) mehr |
FBN1 |
Mutation scanning (DGGE); sequencing; MLPA |
8 Weeks |
€ 1650,00 |
|
Marfan syndrome type 2/LOEYS-DIETZ SYNDROME mehr |
TGFBR1 |
Sequencing |
4 Weeks |
€ 471,00 |
|
Marfan syndrome type 2/LOEYS-DIETZ SYNDROME mehr |
TGFBR2 |
Sequencing |
4 Weeks |
€ 450,00 |
|
MARFAN SYNDROME, TYPE 1, MFS1 mehr |
FBN1 (FIBRILLIN 1) |
Deletions-Duplications |
€ 480,00 |
|
|
MARFAN SYNDROME, TYPE 1, MFS1 mehr |
FBN1 (FIBRILLIN 1) |
Mutation screening in exons 13, 15, 21, 23, 24, 25, 26, 27, 28, 43, 44, 55, 62, 63 and 65 of the FBN1 gene |
4 Weeks |
€ 1097,00 |
|
MARFAN SYNDROME, TYPE 1, MFS1 mehr |
FBN1 (FIBRILLIN 1) |
Whole Gene |
€ 1440,00 |
|
|
MARINESCO-SJOGREN SYNDROME mehr |
SIL1 (SIL1, S. CEREVISIAE, HOMOLOG OF, BIP-ASSOCIATED PROTEIN, BAP) |
Sequencing |
€ 1440,00 |
|
|
MARSHALL SYNDROME mehr |
COL11A1 (COLLAGEN, TYPE 11, ALPHA-1) |
Sequencing |
€ 3600,00 |
|
|
MASS PHENOTYPE mehr |
FBN1 (FIBRILLIN 1) |
Deletions-Duplications |
€ 480,00 |
|
|
MASS PHENOTYPE mehr |
FBN1 (FIBRILLIN 1) |
Whole Gene |
€ 1800,00 |
|
|
MAST CELL LEUKEMIA mehr |
KIT |
MUTATIONS IN EXON 17 (GLEEVEC/IMATINIB RESPONSIVENESS) |
€ 360,00 |
|
|
MAST CELL LEUKEMIA mehr |
MUTATIONS IN EXON 17 IN KIT |
GLEEVEC / IMATINIB RESPONSIVENESS |
€ 360,00 |
|
|
MAST CELL LEUKEMIA mehr |
Mutations in Exon 17 in KIT |
Gleevec/Imatinib Responsiveness Diagnostic & Follow-up |
€ 480,00 |
|
|
MASTOCYTOSIS mehr |
KIT |
MUTATIONS IN EXON 17 (GLEEVEC/IMATINIB RESPONSIVENESS) |
€ 360,00 |
|
|
MASTOCYTOSIS mehr |
MUTATIONS IN EXON 17 IN KIT |
GLEEVEC / IMATINIB RESPONSIVENESS |
€ 360,00 |
|
|
MASTOCYTOSIS mehr |
Mutations in Exon 17 in KIT |
Gleevec/Imatinib Responsiveness Diagnostic & Follow-up |
€ 480,00 |
|
|
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3, MODY3 mehr |
HNF1A (TCF1) |
Deletion-Duplication |
€ 420,00 |
|
|
MAY-HEGGLIN ANOMALY mehr |
MYH9 (MYOSIN, HEAVY CHAIN 9) |
Sequencing |
€ 1680,00 |
|
|
McArdle Disease (Glycogen storage disease V) mehr |
PYGM |
Sequencing(stufe 1= 6 Exons) |
3 Weeks |
€ 440,00 |
|
McArdle Disease (Glycogen storage disease V) mehr |
PYGM |
Sequencing(stufe 2=rest=14Exons) |
3 Weeks |
€ 1320,00 |
|
MCCUNE-ALBRIGHT SYNDROME mehr |
GNAS |
Sequencing |
4 Weeks |
€ 948,00 |
|
MCCUNE-ALBRIGHT SYNDROME mehr |
GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) |
2 Common Mutations: R201H and R201C |
€ 192,00 |
|
|
MCKUSICK-KAUFMAN SYNDROME mehr |
BBS6 (MKKS, MKS) |
Sequencing |
€ 840,00 |
|
|
Meckel Syndrome mehr |
CEP290 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1430,00 |
|
Meckel Syndrome mehr |
CEP290 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
MECKEL SYNDROME, TYPE 1 mehr |
MKS1 |
Sequencing |
€ 1440,00 |
|
|
MECKEL SYNDROME, TYPE 3 mehr |
MKS3 (MECKELIN, TMEM67, TRANSMEMBRANE PROTEIN 67) |
Sequencing |
€ 3120,00 |
|
|
MECKEL SYNDROME, TYPE 5 mehr |
RPGRIP1L (RPGRIP1-LIKE) |
Sequencing |
€ 3120,00 |
|
|
MEDICATION mehr |
CYP2D6 and CYP2C19 |
AMPLI CHIP CYP450, CYP2D6: alleles *2, 3, 4, 5, 6, 7, 8, 9, 14, 19, 20, 21, 24, 28, 29, 30, 33, 38, 39, 40, 41, 44, 59, 70, and different alleles *XN and CYP2C19: alleles *2 and *3 |
€ 600,00 |
|
|
Mediterranean Fever, familial mehr |
MEFV |
Detection of mutations E148Q, G167A and T267I in the MEFV gene |
€ 251,00 |
|
|
Mediterranean Fever, familial mehr |
MEFV |
Detection of mutations M680I, V726A, M694V, M694I, K695R, A744S, R761H, 692delI, A653H and A408G in the MEFV gene |
€ 311,00 |
|
|
Mediterranean fever, familial (FMF) mehr |
MEFV |
Sequencing |
3 Weeks |
€ 665,00 |
|
MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, MCAD mehr |
ACADM |
Whole Gene |
€ 1188,00 |
|
|
Medium-chain acyl dehydrogenase (MCAD) deficiency mehr |
ACADM-gene |
Stage 1: sequencing analysis for Lys329Glu (=K304E) |
1-2 Weeks |
€ 200,00 |
|
Medium-chain acyl dehydrogenase (MCAD) deficiency mehr |
ACADM-gene |
Stage 2: sequencing analysis for exons 1-10 and 12 |
2-3 Weeks |
€ 1650,00 |
|
Medullary cystic kidney disease 2 mehr |
UMOD |
DNA Sequencing;Whole Gene |
4 Weeks |
€ 630,00 |
|
Medullary cystic kidney disease 2 mehr |
UMOD |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Medullary Cystic Kidney Disease type 2 mehr |
UMOD |
Screening for the most frequent mutations |
5 weeks |
€ 521,40 |
|
MEDULLARY THYROID CARCINOMA, MTC mehr |
RET (RET KINASE) |
Exons 10,11, 13-16 |
€ 480,00 |
|
|
MEDULLOBLASTOMA mehr |
EGFR |
7p |
€ 480,00 |
|
|
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS mehr |
MLC1 |
Whole Gene and Deletions-Duplications |
€ 1380,00 |
|
|
MELANOMA, MALIGNANT, SOMATIC mehr |
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) |
Sequencing |
€ 1200,00 |
|
|
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) mehr |
mitochondrialDNA |
tRNA 3243 A>G mutation |
1 Week |
€ 260,00 |
|
MELAS syndrome mehr |
mit |
Sequencing |
2 Weeks |
€ 230,00 |
|
MELAS syndrome mehr |
MTND5 |
Detection of mutations 12770A>G, 13045A>C, c.1308484A>T, 13513G>A and 13514A>G on the MTND5 mitochondrial gene |
3 Weeks |
€ 327,00 |
|
MELAS syndrome mehr |
MTND5 |
Complete sequencing of the MTND5 mitochondrial gene |
3 Weeks |
€ 823,00 |
|
MELAS syndrome mehr |
MTTL1 |
Detection of mutations 3243A>G, 3256T>C and 3252A>G in the mitochondrial gene MTTL1 |
3 Weeks |
€ 313,00 |
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
9 common mutations representing > 90% of all MELAS mutations: A3243G, T3271C, C3093G, A3252G, C3256T, A3260G, T3291C, T3308C, A13514G |
Sequencing |
€ 720,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
A13084T |
Sequencing |
€ 180,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
A13514G |
Sequencing |
€ 180,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
A3252G |
Sequencing |
€ 180,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
A3260G |
Sequencing |
€ 180,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
A3271G |
Sequencing |
€ 180,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
C3093G |
Sequencing |
€ 180,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
C3256T |
Sequencing |
€ 180,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
G13513A |
Sequencing |
€ 180,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1) |
Sequencing |
€ 1320,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
MTND5 (COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5NADH DEHYDROGENASE, SUBUNIT 5) |
Sequencing |
€ 1320,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
MTND6 (COMPLEX 1, SUBUNIT ND6, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND6NADH DEHYDROGENASE, SUBUNIT 6) |
Sequencing |
€ 1320,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
MTTF (TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE) |
Sequencing |
€ 1020,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
MTTH (TRANSFER RNA, MITOCHONDRIAL, HISTIDINE) |
Sequencing |
€ 1020,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
Sequencing |
€ 1020,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Sequencing |
€ 1020,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
MTTQ (TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE) |
Sequencing |
€ 1020,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
MTTS1 (TRANSFER RNA, MITOCHONDRIAL, SERINE, 1) |
Sequencing |
€ 1020,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
T3291C |
Sequencing |
€ 180,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
T3308C |
Sequencing |
€ 180,00 |
|
|
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES) mehr |
T8356C |
Sequencing |
€ 180,00 |
|
|
MELNICK-NEEDLES SYNDROME mehr |
FLNA (FILAMIN A) |
Exon 22 |
€ 516,00 |
|
|
MELORHEOSTOSIS mehr |
LEMD3 (LEM DOMAIN-CONTAINING 3, MAN1) |
Sequencing |
€ 960,00 |
|
|
MENKES DISEASE mehr |
ATP7A |
Deletion-Duplication |
€ 420,00 |
|
|
MENKES DISEASE mehr |
ATP7A |
Whole Gene |
€ 2040,00 |
|
|
MENTAL RETARDATION mehr |
1p36 deletion |
Sequencing |
€ 480,00 |
|
|
MENTAL RETARDATION mehr |
All telomeres |
Sequencing |
€ 480,00 |
|
|
MENTAL RETARDATION (X-LINKED), WITH ISOLATED GROWTH HORMONE DEFICIENCY, MRGH mehr |
SOX3 (SRY-BOX 3) |
Sequencing |
€ 600,00 |
|
|
MENTAL RETARDATION AND CONGENITAL HEART DEFECT mehr |
8p23.1 deletion |
Sequencing |
€ 480,00 |
|
|
MENTAL RETARDATION SYNDROMIC (X-LINKED), TYPE 14, MRXS14 mehr |
UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF NONSENSE TRANSCRIPTS 3B) |
Sequencing |
€ 1800,00 |
|
|
MENTAL RETARDATION WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (X-LINKED) mehr |
OPHN1 (OLIGOPHRENIN 1, OPN1) |
Sequencing |
€ 1800,00 |
|
|
MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM mehr |
MECP2 |
Deletion Analysis (MLPA) |
€ 504,00 |
|
|
MENTAL RETARDATION, CONGENITAL ANOMALIES mehr |
Genome-wide Coverage for Postnatal Testing
|
CGH CHIP - Postnatal Testing |
€ 1440,00 |
|
|
MENTAL RETARDATION, NONSPECIFIC (X-LINKED) mehr |
DLG3 |
See also Mental Retardation (MRX) Panel |
€ 1140,00 |
|
|
MENTAL RETARDATION, NONSPECIFIC (X-LINKED) mehr |
ZNF41 (ZINC FINGER PROTEIN 41) |
See also Mental Retardation (MRX) Panel |
€ 816,00 |
|
|
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 44, MRX44 mehr |
FTSJ1 (FTSJ HOMOLOG 1) |
See also Mental Retardation (MRX) Panel |
€ 720,00 |
|
|
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 58, MRX58 mehr |
TM4SF2 (TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 2) |
See also Mental Retardation (MRX) Panel |
€ 696,00 |
|
|
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 63, MRX63 mehr |
FACL4 (FATTY ACID COA LIGASE, LONG CHAIN 4) |
See also Mental Retardation (MRX) Panel |
€ 816,00 |
|
|
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 68, MRX68 mehr |
FACL4 (FATTY ACID COA LIGASE, LONG CHAIN 4) |
See also Mental Retardation (MRX) Panel |
€ 816,00 |
|
|
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 9, MRX9 mehr |
FTSJ1 (FTSJ HOMOLOG 1) |
See also Mental Retardation (MRX) Panel |
€ 720,00 |
|
|
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE19, MRX19 mehr |
RSK2 (RPS6KA3) |
Sequencing |
€ 2520,00 |
|
|
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE54, MRX54 mehr |
ARX |
See also Mental Retardation (MRX) Panel |
€ 720,00 |
|
|
MENTAL RETARDATION, SYNDROMIC (X -LINKED), TYPE3, MRXS3 mehr |
PQBP1 (POLYGLUTAMINE-BINDING PROTEIN 1) |
See also Mental Retardation (MRX) Panel |
€ 600,00 |
|
|
MENTAL RETARDATION, SYNDROMIC (X ?LINKED) mehr |
SMCX (JARID1C) |
See also Mental Retardation Panel |
€ 1176,00 |
|
|
MENTAL RETARDATION, SYNDROMIC (X-LINKED), CHRISTIANSON TYPE mehr |
SLC9A6 (SOLUTE CARRIER FAMILY 9, ISOFORM A6) |
Sequencing |
€ 1440,00 |
|
|
MENTAL RETARDATION, WITH SEIZURES, SHORT STATURE AND MIDFACE HYPOPLASIA (X-LINKED) mehr |
SLC6A8 (CREATINE TRANSPORTER, CT1) |
Sequencing |
€ 1800,00 |
|
|
MERRF (myoclonic epilepsy with ragged red fiber) mehr |
mitochondrialDNA |
tRNA 8344 A>G mutation |
1 Week |
€ 276,00 |
|
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) mehr |
A8296G |
Sequencing |
€ 180,00 |
|
|
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) mehr |
A8344G |
Sequencing |
€ 180,00 |
|
|
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) mehr |
G8363A |
Sequencing |
€ 180,00 |
|
|
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) mehr |
MTND5 (COMPLEX 1, SUBUNIT ND5, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND5NADH DEHYDROGENASE, SUBUNIT 5) |
Sequencing |
€ 1320,00 |
|
|
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) mehr |
MTTF (TRANSFER RNA, MITOCHONDRIAL, PHENYLALANINE) |
Sequencing |
€ 1020,00 |
|
|
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) mehr |
MTTH (TRANSFER RNA, MITOCHONDRIAL, HISTIDINE) |
Sequencing |
€ 1020,00 |
|
|
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) mehr |
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
Sequencing |
€ 1020,00 |
|
|
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) mehr |
MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Sequencing |
€ 1020,00 |
|
|
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) mehr |
MTTS1 (TRANSFER RNA, MITOCHONDRIAL, SERINE, 1) |
Sequencing |
€ 1020,00 |
|
|
MERRF SYNDROME (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS) mehr |
T8356C |
Sequencing |
€ 180,00 |
|
|
MESP2 (MESODERM POSTERIOR 2) mehr |
MESP2 (MESODERM POSTERIOR 2) |
(request price) |
€ 0,00 |
|
|
METACHROMATIC LEUKODYSTROPHY mehr |
ARSA |
Sequencing |
4 Weeks |
€ 1020,00 |
|
METACHROMATIC LEUKODYSTROPHY mehr |
ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE) |
Deletion-Duplication |
€ 720,00 |
|
|
METACHROMATIC LEUKODYSTROPHY DUE TO SAP1 DEFICIENCY mehr |
PSAP (PROSAPOSIN) |
Sequencing |
€ 1440,00 |
|
|
METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE mehr |
COL10A1 (COLLAGEN, TYPE X, ALPHA1) |
Whole Gene |
€ 840,00 |
|
|
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS mehr |
RMRP (MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF) |
Sequencing |
€ 420,00 |
|
|
METATROPIC DYSPLASIA mehr |
TRPV4 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; VANILLOID RECEPTOR-RELATED OSMOTICALLY ACTIVATED CHANNEL; OSM9-LIKE TRANSIENT RECEPTOR POTENTIAL CHANNEL 4; TRANSIENT RECEPTOR POTENTIAL CHANNEL 12) |
Sequencing |
€ 1920,00 |
|
|
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE mehr |
DIA1 (CYTOCHROME b5 REDUCTASE, CYB5R) |
Sequencing |
€ 1068,00 |
|
|
Methionine adenosyltransferase deficiency mehr |
MAT1A |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 495,00 |
|
Methionine adenosyltransferase deficiency mehr |
MAT1A |
Carrier testing |
2 Weeks |
€ 180,00 |
|
METHYLCOBALAMIN DEFICIENCY, cblG TYPE mehr |
MTR (5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; TETRAHYDROPTEROYLGLUTAMATE METHYLTRANSFERASE) |
Sequencing |
€ 2760,00 |
|
|
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE mehr |
MMACHC |
Sequencing |
€ 360,00 |
|
|
METHYLMALONIC ACIDURIA DUE TO MCM DEFICIENCY mehr |
MUT (METHYLMALONYL CoA MUTASE, MCM) |
Sequencing |
€ 960,00 |
|
|
METHYLMALONIC ACIDURIA, cblA TYPE mehr |
MMAA |
Sequencing |
€ 540,00 |
|
|
METHYLMALONIC ACIDURIA, cblB TYPE mehr |
MMAB (COBALAMIN ADENOSYLTRANSFERASE) |
Sequencing |
€ 660,00 |
|
|
METHYLMALONYL-CoA EPIMERASE DEFICIENCY mehr |
MCEE (METHYLMALONYL-CoA EPIMERASE; METHYLMALONYL-CoA RACEMASE) |
Sequencing |
€ 360,00 |
|
|
MICROPENIS mehr |
LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR ) |
Sequencing |
€ 1200,00 |
|
|
MICROPHTHALMIA mehr |
VSX2 (VISUAL SYSTEM HOMEOBOX GENE 2, ZEBRAFISH, HOMOLOG OF) |
Sequencing |
€ 828,00 |
|
|
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS mehr |
Xp22.3 deletion |
Sequencing |
€ 480,00 |
|
|
MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 mehr |
SIX6 |
Sequencing |
€ 660,00 |
|
|
MIGRAINE, FAMILIAL HEMIPLEGIC, 1 mehr |
CACNA1A (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, CACNL1A4) |
Sequencing |
€ 1440,00 |
|
|
Migraine, familial hemiplegic, 3 (FHM3) mehr |
SCN1A |
Mutation scanning (DGGE), sequencing |
6 Weeks |
€ 1650,00 |
|
MILLER-DIEKER LISSENCEPHALY SYNDROME, MDLS mehr |
PAFAH1B1 (LIS1) |
Deletions |
€ 420,00 |
|
|
MILLER-DIEKER LISSENCEPHALY SYNDROME, MDLS mehr |
PAFAH1B1 (LIS1) |
Whole Gene |
€ 1320,00 |
|
|
Miller-Dieker syndrome mehr |
17p13.3 |
MLPA* or FISH |
1 Week |
€ 230,00 |
|
MISMATCH REPAIR CANCER SYNDROME mehr |
PMS2 |
Sequencing |
€ 960,00 |
|
|
MITOCHONDRIAL DISEASE mehr |
Complete Mitochondrial DNA Sequencing |
Sequencing |
€ 3240,00 |
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA mehr |
SUCLA2 (SUCCINATE-CoA LIGASE, ADP-FORMING, BETA SUBUNIT; ATP-SPECIFIC SUCCINYL-CoA SYNTHETASE, BETA SUBUNIT) |
Sequencing |
€ 780,00 |
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY mehr |
RRM2B (RIBONUCLEOTIDE REDUCTASE, M2 B; RIBONUCLEOTIDE REDUCTASE SMALL SUBUNIT 2-LIKE, p53-INDUCIBLE; P53R2) |
Sequencing |
€ 840,00 |
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM mehr |
DGUOK (DEOXYGUANOSINE KINASE, MITOCHONDRIAL; DGK) |
Sequencing |
€ 720,00 |
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM mehr |
MPV17 (MPV17, MOUSE, HOMOLOG OF) |
Sequencing |
€ 540,00 |
|
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, MNGIE mehr |
ECGF1 (ENDOTHELIAL CELL GROWTH FACTOR, PLATELET-DERIVED, THYMIDINE PHOSPHORYLASE, GLIOSTATIN) |
Sequencing |
€ 1020,00 |
|
|
MIYOSHI MYOPATHY mehr |
DYSF (DYSFERLIN) |
Sequencing |
€ 2880,00 |
|
|
MODY 2 mehr |
GCK |
Sequencing+MLPA |
4 Weeks |
€ 1210,00 |
|
MODY 4 mehr |
IPF1 |
Sequencing |
4 Weeks |
€ 230,00 |
|
Mody Diabetes (maturity-onset diabetes in the young) mehr |
HNF1A&GCK |
Panel:Analysis of the complete HNF1A- and GCK-gene, and MLPA-analysis |
1-2 Weeks |
€ 3500,00 |
|
Mody Diabetes type 1 mehr |
HNF4A-gene |
MLPA analysis of HNF4A-gene |
1-2 Weeks |
€ 363,00 |
|
Mody Diabetes type 2 mehr |
GCK-gene |
MLPA analysis of GCK-gene |
1-2 Weeks |
€ 363,00 |
|
Mody Diabetes type 3 mehr |
HNF1A(=TCF1)-gene |
MLPA analysis of HNF1A (=TCF1)-gene |
1-2 Weeks |
€ 363,00 |
|
Mody Diabetes type 5 mehr |
HNF1B-gene |
MLPA analysis of HNF1BA-gene |
1-2 Weeks |
€ 363,00 |
|
MODY1 diabetes mehr |
HNF4A |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 605,00 |
|
MODY1 diabetes mehr |
HNF4A |
Multiplex Ligation-Dependent Probe Amplification; each of the 10 HNF4A exons. |
2-4 Weeks |
€ 385,00 |
|
MODY1 diabetes mehr |
HNF4A |
Carrier testing |
2 Weeks |
€ 180,00 |
|
MODY2 diabetes mehr |
GCK |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 589,00 |
|
MODY2 diabetes mehr |
GCK |
Multiplex Ligation-Dependent Probe Amplification; each of the 10 GCK exons. |
2-4 Weeks |
€ 385,00 |
|
MODY2 diabetes mehr |
GCK |
Carrier testing |
2 Weeks |
€ 180,00 |
|
MODY3 diabetes mehr |
HNF1A |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 550,00 |
|
MODY3 diabetes mehr |
HNF1A |
Multiplex Ligation-Dependent Probe Amplification; each of the 10 HNF1A exons. |
2-4 Weeks |
€ 385,00 |
|
MODY3 diabetes mehr |
HNF1A |
Carrier testing |
2 Weeks |
€ 180,00 |
|
MODY5 diabetes mehr |
HNF1B |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 495,00 |
|
MODY5 diabetes mehr |
HNF1B |
Multiplex Ligation-Dependent Probe Amplification; each of the 9 HNF1B exons. |
2-4 Weeks |
€ 385,00 |
|
MODY5 diabetes mehr |
HNF1B |
Carrier testing |
2 Weeks |
€ 180,00 |
|
MODY6 diabetes mehr |
NEUROD1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 180,00 |
|
MODY6 diabetes mehr |
NEUROD1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
MODY7 diabetes mehr |
KLF11 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 230,00 |
|
MODY7 diabetes mehr |
KLF11 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
MODY8 diabetes mehr |
CEL |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 330,00 |
|
MODY8 diabetes mehr |
CEL |
Carrier testing |
2 Weeks |
€ 180,00 |
|
MOHR-TRANEBJAERG SYNDROME mehr |
TIMM8A (TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, A; DEAFNESS/DYSTONIA PEPTIDE 1; DDP1) |
Sequencing |
€ 480,00 |
|
|
Monilethrix mehr |
KRTHB1 and KRTHB6 |
Complete sequencing of the KRTHB1 and KRTHB6 genes |
8-10 weeks |
€ 2613,00 |
|
Morbid obesity mehr |
MC4R |
Complete sequencing of MC4R gene |
4-6 weeks |
€ 221,00 |
|
Morbid obesity mehr |
LEP |
Complete sequencing of LEP gene |
4 weeks |
€ 412,00 |
|
Morbus Crohn mehr |
NOD2 |
R702W, G908R, 1007fs |
1 Day - 2 Weeks |
€ 30,00 |
|
MOWAT-WILSON SYNDROME mehr |
ZFHX1B (ZINC FINGER HOMEOBOX 1B; ZFHX1B, SMAD-INTERACTING PROTEIN 1, SMADIP1, SIP1) |
Whole Gene |
€ 720,00 |
|
|
MTHFR deficiency mehr |
MTHFR |
Snapshot |
1 Week |
€ 130,00 |
|
MTHFR deficiency mehr |
MTHFR |
Detection of the A222V polymorphism in MTHFR gene |
3 Weeks |
€ 149,00 |
|
MUCKLE-WELLS SYNDROME mehr |
CIAS1 (CRYOPYRIN) |
Sequencing |
€ 780,00 |
|
|
MUCOLIPIDOSIS, TYPE 4, ML4 mehr |
MCOLN1 (ML4, MUCOLYPIN) |
2 Common Askhenazi Mutations: IVS3-2A>G and 6.4 kb Deletion |
€ 540,00 |
|
|
MUCOLIPIDOSIS, TYPE 2, ML2 mehr |
GNPTAB (N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS) |
Sequencing |
€ 2880,00 |
|
|
MUCOLIPIDOSIS, TYPE 3, ML3 mehr |
GNPTAB (N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS) |
Sequencing |
€ 2880,00 |
|
|
Mucopolysaccharidosis type 1 (Hurler-Scheie syndrome) mehr |
IDUA |
Sequencing |
4 Weeks |
€ 1320,00 |
|
MUCOPOLYSACCHARIDOSIS TYPE 3A, MPS3A mehr |
SGSH (HEPARAN SULFATE SULFATASE, SULFAMIDASE, N-SULFOGLUCOSAMINE SULFOHYDROLASE) |
Sequencing |
€ 600,00 |
|
|
MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6 mehr |
ARSB (ARYLSULFATASE B, N-ACETYLGALACTOSAMINE-4-SULFATASE) |
Sequencing |
€ 864,00 |
|
|
MUCOPOLYSACCHARIDOSIS TYPE 7, MPS7 mehr |
GUSB (BETA-GLUCURONIDASE) |
Sequencing |
€ 1320,00 |
|
|
MUCOPOLYSACCHARIDOSIS TYPE 9, MPS9 mehr |
HYAL1 (HYALURONOGLUCOSAMINIDASE 1; HYALURONIDASE 1) |
Sequencing |
€ 720,00 |
|
|
MUCOPOLYSACCHARIDOSIS TYPE IVA mehr |
GALNS |
Sequencing |
4 Weeks |
€ 1320,00 |
|
MUCOPOLYSACCHARIDOSIS, TYPE 2 mehr |
IDS (IDURONATE SULFATASE) |
Sequencing |
€ 1140,00 |
|
|
MUCOPOLYSACCHARIDOSIS, TYPE 3C, MPS3C mehr |
HGSNAT (HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; TRANSMEMBRANE PROTEIN 76; TMEM76) |
Deletion-Duplication |
€ 720,00 |
|
|
MUCOPOLYSACCHARIDOSIS, TYPE 3C, MPS3C mehr |
HGSNAT (HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; TRANSMEMBRANE PROTEIN 76; TMEM76) |
Whole Gene |
€ 1740,00 |
|
|
MUCOPOLYSACCHARIDOSIS, TYPE 3D, MPS3D mehr |
GNS (N-ACETYLGLUCOSAMINE-6-SULFATASE; GLUCOSAMINE-6-SULFATASE) |
Sequencing |
€ 2400,00 |
|
|
MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A mehr |
GALNS (GALACTOSAMINE-6-SULFATE SULFATASE; N-ACETYLGALACTOSAMINE-SULFATE SULFATASE) |
Deletion-Duplication |
€ 720,00 |
|
|
MUCOPOLYSACCHARIDOSIS, TYPE 4B, MPS4B mehr |
GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) |
Sequencing |
€ 1920,00 |
|
|
MUCOPOLYSACCHARIDOSIS, TYPE 5, MPS5 mehr |
IDUA (ALPHA-L-IDURONIDASE) |
Sequencing |
€ 1380,00 |
|
|
MUCOPOLYSACCHARIDOSIS, TYPE IH mehr |
IDUA (ALPHA-L-IDURONIDASE) |
Sequencing |
€ 1380,00 |
|
|
MUCOPOLYSACCHARIDOSIS, TYPE IH/S mehr |
IDUA (ALPHA-L-IDURONIDASE) |
Sequencing |
€ 1380,00 |
|
|
Muenke syndrome mehr |
FGFR3 |
Sequencing |
3 Weeks |
€ 1320,00 |
|
MULIBREY NANISM mehr |
TRIM37 (TRIPARTITE MOTIF-CONTAINING PROTEIN 37) |
Sequencing |
€ 180,00 |
|
|
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD mehr |
ETFA (ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE) |
Sequencing |
€ 840,00 |
|
|
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD mehr |
ETFB (ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE) |
Sequencing |
€ 600,00 |
|
|
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD mehr |
ETFDH (ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ELECTRON TRANSFER FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE) |
Sequencing |
€ 1020,00 |
|
|
Multiple cavernomatosis mehr |
KRIT1 |
Complete sequencing of KRIT1 gene |
4-6 weeks |
€ 1320,00 |
|
Multiple cavernomatosis mehr |
KRIT1 |
Detection of mutation 1363C>T on the KRIT1 gene |
4-6 weeks |
€ 313,00 |
|
MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, MCUL1 mehr |
FH (FUMARATE HYDRATASE, FUMARASE) |
Sequencing |
€ 1440,00 |
|
|
Multiple endocrine Neoplasia Type II, MEN II mehr |
RET-gene |
Analysis of exon 10, 11, 13 - 16of the RET-gene |
1-2 Weeks |
€ 480,00 |
|
MULTIPLE ENDOCRINE NEOPLASIA, TYPE 1, MEN1 mehr |
MEN1� (MENIN) |
Sequencing |
€ 360,00 |
|
|
Multiple endocrine Neoplasia, type 2A mehr |
RET |
Sequencing |
3 Weeks |
€ 1372,00 |
|
Multiple endocrine Neoplasia, type 2B mehr |
RET |
Sequencing |
3 Weeks |
€ 1372,00 |
|
MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2B, MEN2B mehr |
RET (RET KINASE) |
Exons 10,11, 13-16 |
€ 480,00 |
|
|
MULTIPLE EPIPHYSEAL DYSPLASIA 1, EDM1 mehr |
COMP |
Exons 13, 14 and 16 (70 % of mutations) |
€ 732,00 |
|
|
Multiple epiphyseal dysplasia type 1 mehr |
MATN3, COL9A1, COL9A2 and COL9A3 |
Mutation screening in exon 2 of MATN3, 8 and 9 of COL9A1 gene, and exons 2, 3 and 4 of the COL9A2 and COL9A3 genes |
5 weeks |
€ 1147,30 |
|
Multiple epiphyseal dysplasia type 1 mehr |
COMP |
Mutation screening in exons 9, 10, 11, 12, 13, 14, 15, 16, 17, 19 of COMP gene |
3 weeks |
€ 1268,00 |
|
Multiple epiphyseal dysplasia type 1 mehr |
COMP |
Complete sequencing of COMP gene |
5 weeks |
€ 1255,00 |
|
MULTIPLE MYELOMA mehr |
IgH / MAF |
t(14;16) |
€ 480,00 |
|
|
MULTIPLE MYELOMA , MM mehr |
IgH / CCND1 |
t(11;14) |
€ 480,00 |
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE mehr |
CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) |
Sequencing |
€ 780,00 |
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE mehr |
CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE) |
Sequencing |
€ 1680,00 |
|
|
MULTIPLE SULFATASE DEFICIENCY mehr |
SUMF1 (SULFATASE-MODIFYING FACTOR 1) |
Sequencing |
€ 972,00 |
|
|
MULTIPLE SYNOSTOSIS SYNDROME 1 mehr |
NOG (NOGGIN) |
Sequencing |
€ 480,00 |
|
|
MULTISYSTEM DISORDER mehr |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
Sequencing |
€ 576,00 |
|
|
MULTISYSTEM DISORDER mehr |
MTTI (TRANSFER RNA, MITOCHONDRIAL, ISOLEUCINE) |
Sequencing |
€ 1020,00 |
|
|
Muscle-eye-brain disease (MEB) mehr |
POMGNT1 |
Sequencing |
4 Weeks |
€ 1870,00 |
|
Muscular dystrophy Becker (BMD) mehr |
BMD |
Deletions, duplications, carrier (MLPA*) |
1 Week |
€ 330,00 |
|
Muscular dystrophy Becker (BMD) mehr |
BMD |
Sequencing |
8 Weeks |
€ 4300,00 |
|
Muscular dystrophy Duchenne (DMD) mehr |
DMD |
Deletions, duplications, carrier (MLPA*) |
1 Week |
€ 330,00 |
|
Muscular dystrophy Duchenne (DMD) mehr |
DMD |
Sequencing |
10 Weeks |
€ 1666,00 |
|
Muscular Dystrophy type Duchenne / Becker, DMD/BMD mehr |
DMD-gene |
MLPA analysis |
1-2 Weeks |
€ 660,00 |
|
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, TYPE 1A, MDC1A mehr |
LAMA2 (ALPHA-2 LAMININ, HEAVY CHAIN LAMININ 2, MEROSIN) |
Sequencing |
€ 1440,00 |
|
|
MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1C, MDC1C mehr |
FKRP (FUKUTIN-RELATED PROTEIN) |
Sequencing |
€ 480,00 |
|
|
MUSCULAR DYSTROPHY, LIMB GIRDLE, TYPE 2A, LGMD2A mehr |
CAPN3 (CALPAIN 3) |
Sequencing |
€ 1080,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE mehr |
SGCA, SGCB, SGCD, SGCG |
Deletions-Duplications |
€ 420,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, LGMD1A mehr |
TTID (TITIN IMMUNOGLOBULIN DOMAIN PROTEIN, MYOTILIN, MYOT) |
Exon 2 |
€ 240,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, LGMD1B mehr |
LMNA (LAMIN A/C) |
Sequencing |
€ 840,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, LGMD1C mehr |
CAV3 (CAVEOLIN 3) |
Sequencing |
€ 240,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, LGMD2B mehr |
DYSF (DYSFERLIN) |
Sequencing |
€ 2880,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D mehr |
SGCA (SARCOGLYCAN, ALPHA, ADHALIN, DYSTROGLYCAN 2) |
Sequencing |
€ 804,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, LGMD2E mehr |
SGCB (SARCOGLYCAN, BETA) |
Whole Gene |
€ 600,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, LGMD2F mehr |
SGCD (SARCOGLYCAN DELTA) |
Sequencing |
€ 720,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, LGMD2G mehr |
TCAP (TITIN-CAP) |
See also Next Generation Sequencing Platforms |
€ 840,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I, LGMD2I mehr |
FKRP (FUKUTIN-RELATED PROTEIN) |
Sequencing |
€ 480,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K, LGMD2K mehr |
POMT1 (PROTEIN O-MANNOSYLTRANSFERASE 1) |
Sequencing |
€ 1320,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M, LGMD2M mehr |
FKTN (FUKUTIN; FCMD) |
Sequencing |
€ 1080,00 |
|
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH EPIDERMOLYSIS BULLOSA SIMPLEX mehr |
PLEC1 (PLECTIN 1) |
Sequencing |
€ 3000,00 |
|
|
MYASTHENIA, LIMB-GIRDLE, FAMILIAL mehr |
DOK7 (DOWNSTREAM OF TYROSINE KINASE 7) |
Sequencing |
€ 900,00 |
|
|
MYASTHENIC SYNDROME, CONGENITAL mehr |
CHRNE |
Sequencing |
4 Weeks |
€ 780,00 |
|
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY mehr |
CHRNB1 (CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1;ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT ) |
Sequencing |
€ 780,00 |
|
|
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY mehr |
RAPSN (RAPSYN, RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD) |
Sequencing |
€ 900,00 |
|
|
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA mehr |
CHAT (CHOLINE ACETYLTRANSFERASE) |
Sequencing |
€ 1260,00 |
|
|
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL mehr |
CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) |
Sequencing |
€ 780,00 |
|
|
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL mehr |
CHRND (CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT) |
Sequencing |
€ 900,00 |
|
|
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL mehr |
CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) |
Sequencing |
€ 780,00 |
|
|
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL mehr |
CHRNB1 (CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1;ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT ) |
Sequencing |
€ 780,00 |
|
|
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL mehr |
CHRND (CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT) |
Sequencing |
€ 900,00 |
|
|
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL mehr |
CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT) |
Sequencing |
€ 780,00 |
|
|
MYELODYSPLASTIC SYNDROME mehr |
MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Sequencing |
€ 1020,00 |
|
|
MYELODYSPLASTIC SYNDROME, MDS mehr |
-5 / 5q31 |
Sequencing |
€ 480,00 |
|
|
MYELODYSPLASTIC SYNDROME, MDS mehr |
-7 / 7q31 |
Sequencing |
€ 480,00 |
|
|
MYELODYSPLASTIC SYNDROME, MDS mehr |
EVI1 |
3q26 |
€ 480,00 |
|
|
MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED mehr |
JAK2 (JANUS KINASE 2) |
Exon 12, including V617F Mutation |
€ 300,00 |
|
|
MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED mehr |
MPL (MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE, TPOR) |
Exon 10, including W515L Mutation |
€ 300,00 |
|
|
MYELOID METAPLASIA WITH MYELOFIBROSIS mehr |
V617F Mutation in JAK2 |
Diagnostic |
€ 360,00 |
|
|
MYELOPROLIFERATIVE DISEASE, MPD mehr |
X / Y |
Sequencing |
€ 480,00 |
|
|
MYH9 related disorders mehr |
MYH9 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
MYH9 related disorders mehr |
MYH9 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
MYOADENYLATE DEAMINASE DEFICIENCY mehr |
AMPD1 (AMP DEAMINASE) |
2 Mutations: Q12X, P48L |
€ 264,00 |
|
|
MYOCLONIC DYSTONIA mehr |
GCH1 (GTP CYCLOHYDROLASE 1) |
Sequencing |
€ 660,00 |
|
|
MYOCLONIC EPILEPSY OF LAFORA mehr |
EPM2A (LAFORIN) |
Sequencing |
€ 780,00 |
|
|
MYOCLONIC EPILEPSY OF LAFORA mehr |
NHLRC1 (NHL REPEAT-CONTAINING 1 GENE, EPM2B, MALIN) |
Sequencing |
€ 600,00 |
|
|
MYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY (X-LINKED) mehr |
ARX |
See also Mental Retardation (MRX) Panel |
€ 720,00 |
|
|
Myoclonic epilepsy with red ragged fibers (MERRF) mehr |
MTTK |
Sequencing |
2 Weeks |
€ 230,00 |
|
Myoclonic epilepsy with red ragged fibers (MERRF) mehr |
MTTK |
Detection of mutations 8344A>G, 8356T>C and 8363G>A in the mitochondrial gene MTTK |
3 Weeks |
€ 291,00 |
|
Myoclonus dystonia mehr |
SGCE |
Mutation screening in exons 1-7 and 9 of SGCE gene |
3 weeks |
€ 576,00 |
|
Myoclonus dystonia mehr |
SGCE |
Complete sequencing of SGCE gene |
4 weeks |
€ 444,00 |
|
MYOGLOBINURIA, RECURRENT mehr |
MTCO1 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE 1; COX1) |
Sequencing |
€ 948,00 |
|
|
MYOKYMIA WITH NEONATAL EPILEPSY mehr |
KCNQ2 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2) |
Whole Gene and MLPA |
€ 1800,00 |
|
|
MYONEURAL GASTROINTESTINAL ENCEPHALOPATHY SYNDROME mehr |
MTTK (TRANSFER RNA, MITOCHONDRIAL, LYSINE) |
Sequencing |
€ 1020,00 |
|
|
MYOPATHY mehr |
4370insC |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
A12320G |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
A3243T |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
A3251G |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
A3259G |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
A3261G |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
A3266G |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
A3268G |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
A3288G |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
A3302G |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
C15990T |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
C3254G |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
G15762A |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
G4450A |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
G5521A |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
MTTC (TRANSFER RNA, MITOCHONDRIAL, CYSTEINE) |
Sequencing |
€ 1020,00 |
|
|
MYOPATHY mehr |
MTTD (TRANSFER RNA, MITOCHONDRIAL, ASPARTIC ACID) |
Sequencing |
€ 1020,00 |
|
|
MYOPATHY mehr |
MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Sequencing |
€ 1020,00 |
|
|
MYOPATHY mehr |
MTTL2 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 2) |
Sequencing |
€ 1020,00 |
|
|
MYOPATHY mehr |
MTTP (TRANSFER RNA, MITOCHONDRIAL, PROLINE) |
Sequencing |
€ 1020,00 |
|
|
MYOPATHY mehr |
MTTQ (TRANSFER RNA, MITOCHONDRIAL, GLUTAMINE) |
Sequencing |
€ 1020,00 |
|
|
MYOPATHY mehr |
MTTR (TRANSFER RNA, MITOCHONDRIAL, ARGININE) |
Sequencing |
€ 1020,00 |
|
|
MYOPATHY mehr |
MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN) |
Sequencing |
€ 1020,00 |
|
|
MYOPATHY mehr |
T3250C |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
T4409C |
Sequencing |
€ 180,00 |
|
|
MYOPATHY mehr |
T618C |
Sequencing |
€ 180,00 |
|
|
MYOPATHY, CENTRONUCLEAR (AUTOSOMAL DOMINANT) mehr |
DNM2 (DYNAMIN 2, DYN2) |
Sequencing |
€ 1860,00 |
|
|
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION mehr |
ACTA1 (ACTIN) |
Sequencing |
€ 900,00 |
|
|
MYOPATHY, DISTAL 1, MPD1 mehr |
MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
€ 1440,00 |
|
|
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET mehr |
DYSF (DYSFERLIN) |
Sequencing |
€ 2880,00 |
|
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED mehr |
DES (DESMIN) |
Sequencing |
€ 900,00 |
|
|
MYOPATHY, MYOFIBRILLAR, ZASP-RELATED mehr |
LDB3 (LIM DOMAIN-BINDING 3, ZASP, CYPHER) |
Sequencing |
€ 1140,00 |
|
|
MYOPATHY, MYOSIN STORAGE mehr |
MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) |
See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 |
€ 1440,00 |
|
|
MYOPATHY, MYOTONIC DYSTROPHY-LIKE mehr |
MTTA (TRANSFER RNA, MITOCHONDRIAL, ALANINE) |
Sequencing |
€ 1020,00 |
|
|
MYOPATHY, VARIABLE mehr |
CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) |
Sequencing |
€ 780,00 |
|
|
MYOPATHY, WITH DIABETES MELLITUS mehr |
MTTE (TRANSFER RNA, MITOCHONDRIAL, LUTAMIC ACID) |
Sequencing |
€ 1020,00 |
|
|
MYOTILINOPATHY mehr |
TTID (TITIN IMMUNOGLOBULIN DOMAIN PROTEIN, MYOTILIN, MYOT) |
Exon 2 |
€ 240,00 |
|
|
Myotonia congenita Becker (Myotonia autosomal recessive) mehr |
CLCN1 |
Sequencing |
7 Weeks |
€ 810,00 |
|
Myotonia congenita Thomson (Myotonia autosomal dominant) mehr |
CLCN1 |
Sequencing |
7 Weeks |
€ 870,00 |
|
MYOTONIA LEVIOR mehr |
CLCN1 |
Sequencing |
€ 1080,00 |
|
|
Myotonic dystrophy type I, MD1 mehr |
DMPK-genelocus |
Stage 1: PCR analysis of the CTG-repeat |
3 Weeks |
€ 280,00 |
|
Myotonic dystrophy type I, MD1 mehr |
DMPK-genelocus |
Stage 2: Southern blot |
3 Weeks |
€ 440,00 |
|
Myotonic dystrophy type II, MD2 mehr |
PROMM-genelocus |
Stage 1: PCR analysis of the CCTG-repeat |
2 Weeks |
€ 280,00 |
|
Myotonic dystrophy type II, MD2 mehr |
PROMM-genelocus |
Stage 2: Long range PCR and blot |
3 Weeks |
€ 440,00 |
|
MYOTONIC DYSTROPHY, TYPE 2 mehr |
ZNF9 |
Repeat Expansion (CCTG) |
€ 474,00 |
|
|
MYOTUBULAR MYOPATHY (X-LINKED) mehr |
MTM1 (MYOTUBULARIN) |
Sequencing |
€ 1440,00 |
|
|
MYXOID LIPOSARCOMA mehr |
FUS / CHOP |
t(12;16) |
€ 480,00 |
|
|
|
|
|
|
|
N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY mehr |
NAGS (N-ACETYLGLUTAMATE SYNTHASE) |
Sequencing |
€ 816,00 |
|
|
Nail- patella syndrome mehr |
LMX1B |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 530,00 |
|
Nail- patella syndrome mehr |
LMX1B |
Multiplex Ligation-Dependent Probe Amplification; each of the 8 LMX1B exons |
2-4 Weeks |
€ 385,00 |
|
Nail- patella syndrome mehr |
LMX1B |
Carrier testing |
2 Weeks |
€ 180,00 |
|
NAIL-PATELLA SYNDROME, NPS mehr |
LMX1B |
Deletion-Duplication |
€ 420,00 |
|
|
NANCE-HORAN SYNDROME mehr |
NHS |
Sequencing |
€ 1200,00 |
|
|
NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) mehr |
mitochondrialDNA |
m.8993 T>G mutation |
1 Week |
€ 140,00 |
|
NARP syndrome mehr |
MTATP6 |
Sequencing |
3 Weeks |
€ 230,00 |
|
NARP SYNDROME (NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA) mehr |
T8993C |
Sequencing |
€ 180,00 |
|
|
NARP SYNDROME (NEUROPATHY WITH ATAXIA AND RETINITIS PIGMENTOSA) mehr |
T8993G |
Sequencing |
€ 180,00 |
|
|
Neil Patella syndrome mehr |
LMX1B |
Complete sequencing of LMX1B gene |
5 weeks |
€ 851,40 |
|
NEMALINE MYOPATHY (AUTOSOMAL DOMINANT), NEM1 mehr |
ACTA1 (ACTIN) |
Sequencing |
€ 900,00 |
|
|
NEMALINE MYOPATHY (AUTOSOMAL RECESSIVE), NEM2 mehr |
ACTA1 (ACTIN) |
Sequencing |
€ 900,00 |
|
|
NEMALINE MYOPATHY (AUTOSOMAL RECESSIVE), NEM2 mehr |
NEB (NEBULIN) |
1 Mutation: Common Deletion of Exon 55 |
€ 420,00 |
|
|
NEMALINE MYOPATHY TYPE 4 mehr |
TPM2 (TROPOMYOSIN 2, beta TROPOMYOSIN) |
Sequencing |
€ 1020,00 |
|
|
NEONATAL CUTIS LAXA mehr |
ATP7A |
Deletion-Duplication |
€ 420,00 |
|
|
NEONATAL CUTIS LAXA mehr |
ATP7A |
Whole Gene |
€ 2040,00 |
|
|
NEONATAL DEATH mehr |
MTTV (TRANSFER RNA, MITOCHONDRIAL, VALINE) |
Sequencing |
€ 1020,00 |
|
|
NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM mehr |
CASR (CALCIUM-SENSING RECEPTOR, PCAR1) |
Deletion-Duplication |
€ 420,00 |
|
|
Nephrogenic diabetes insipidus mehr |
AQP2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 230,00 |
|
Nephrogenic diabetes insipidus mehr |
AQP2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Nephrogenic diabetes insipidus mehr |
AVPR2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 230,00 |
|
Nephrogenic diabetes insipidus mehr |
AVPR2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
NEPHROLITHIASIS (X-LINKED) mehr |
CLCN5 |
Sequencing |
€ 960,00 |
|
|
Nephrolithiasis, calcium oxalate mehr |
SLC26A6 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1100,00 |
|
Nephronophthisis 1 mehr |
NPHP1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1100,00 |
|
Nephronophthisis 1 mehr |
NPHP1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Nephronophthisis 2 mehr |
INVS |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 770,00 |
|
Nephronophthisis 2 mehr |
INVS |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Nephronophthisis 3 mehr |
NPHP3 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Nephronophthisis 3 mehr |
NPHP3 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Nephronophthisis 4 mehr |
NPHP4 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1620,00 |
|
Nephronophthisis 4 mehr |
NPHP4 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS mehr |
WT1 (WILMS TUMOR 1 GENE) |
Deletion-Duplication |
€ 480,00 |
|
|
NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS mehr |
WT1 (WILMS TUMOR 1 GENE) |
Whole Gene |
€ 840,00 |
|
|
NEPHROTIC SYNDROME, STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1 mehr |
NPHS1 (NEPHRIN) |
Sequencing |
€ 1680,00 |
|
|
NEPHROTIC SYNDROME, STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1 mehr |
NPHS2 (PODOCIN) |
Sequencing |
€ 660,00 |
|
|
NESIDIOBLASTOSIS mehr |
KCNJ11 |
Sequencing |
€ 420,00 |
|
|
NETHERTON SYNDROME mehr |
SPINK5 (LEKTI) |
Sequencing |
€ 2520,00 |
|
|
NEURAMINIDASE DEFICIENCY mehr |
NEU1 (NEURAMINIDASE 1, SIALIDASE) |
Sequencing |
€ 780,00 |
|
|
NEUROAXONAL DYSTROPHY, INFANTILE mehr |
PLA2G6 |
Sequencing |
4 Weeks |
€ 1760,00 |
|
NEUROBLASTOMA mehr |
11q13 |
Sequencing |
€ 480,00 |
|
|
NEUROBLASTOMA mehr |
17q23 - qter |
Sequencing |
€ 480,00 |
|
|
NEUROBLASTOMA mehr |
MYCN |
2p24 |
€ 480,00 |
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED mehr |
PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) |
Sequencing |
€ 2280,00 |
|
|
Neuroferritinopathy mehr |
FTL |
sequencing of the entire gene |
4 Weeks |
€ 273,00 |
|
Neuroferritinopathy mehr |
FTL |
Detection of the c.460_461insA mutation in the FTL gene |
€ 311,00 |
|
|
Neurofibromatosis type 1 (NF1; NF1-gene) mehr |
NF1-gene |
1. stage: Sequencing analysis of the NF1-gene |
2-3 Weeks |
€ 1560,00 |
|
Neurofibromatosis type 1 (NF1; NF1-gene) mehr |
NF1-gene |
2. stage: MLPA-analysis |
2-3 Weeks |
€ 737,00 |
|
Neurofibromatosis type 1 (NF1; NF1-gene) mehr |
NF1-gene |
3. stage: area MLPA |
2-3 Weeks |
€ 363,00 |
|
Neurofibromatosis type 2 mehr |
NF2 |
Complete sequencing of NF2 gene |
4 weeks |
€ 1443,00 |
|
Neurofibromatosis type 2 mehr |
NF2 |
Detection of large deletions and/or duplications in NF2 gene |
4 weeks |
€ 1178,00 |
|
NEUROFIBROMATOSIS TYPE 2, NF2 mehr |
NF2 (NEUROFIBROMIN 2, MERLIN, SCHWANNOMIN) |
Whole Gene and Deletions-Duplications |
€ 1350,00 |
|
|
Neurofibromatosis, type 1 mehr |
NF1 |
Complete sequencing of complementary DNA corresponding to messenger RNA from the NF1 gene |
4 Weeks |
€ 940,00 |
|
NEUROFIBROMATOSIS, TYPE 1, NF1 mehr |
17q11.2 deletion |
Detection of deletions in the 7q11.2 genomic region |
3 weeks |
€ 392,00 |
|
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME mehr |
SPRED1 (SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1) |
Sequencing |
€ 900,00 |
|
|
NEUROFIBROMATOSIS, TYPE I mehr |
NF1 |
Mutation scanning (DGGE), sequencing, deletion testing (MLPA) |
4 Weeks |
€ 2200,00 |
|
NEUROGASTROINTESTINAL SYNDROME mehr |
MTTW (TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN) |
Sequencing |
€ 1020,00 |
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 2A mehr |
HSPB8 (HEAT-SHOCK 22-KD PROTEIN 8) |
Sequencing |
€ 660,00 |
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 7B mehr |
DCTN1 (DYNACTIN 1) |
Sequencing |
€ 2640,00 |
|
|
NEUROPATHY, CONGENITAL HYPOMYELINATING mehr |
MPZ (MYELIN PROTEN ZERO, P0) |
Sequencing |
€ 600,00 |
|
|
Neuropathy, hereditare sensory and autonomic, type II (HSAN2) mehr |
HSN2 |
Sequencing |
4 Weeks |
€ 330,00 |
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 1, HSAN1 mehr |
SPTLC1 (SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1) |
Exons 5-6 |
€ 456,00 |
|
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 1, HSAN1 mehr |
SPTLC1 (SERINE PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1) |
Whole Gene |
€ 1500,00 |
|
|
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V; HSAN5 mehr |
NGFB=NGF |
Sequencing |
4 Weeks |
€ 330,00 |
|
Neuropathy, hereditary, with liability to pressure palsies (HNPP) mehr |
PMP22 |
Deletions (MLPA*) |
1 Week |
€ 230,00 |
|
NEUROPATHY-MYOPATHY, PROGRESSIVE, DUE TO TRIFUNCTIONAL PROTEIN DEFICIENCY mehr |
HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT, LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE, LCHAD) |
2 Common Mutations: (1528G>C and 1132C>T) |
€ 360,00 |
|
|
NEUROPATHY-MYOPATHY, PROGRESSIVE, DUE TO TRIFUNCTIONAL PROTEIN DEFICIENCY mehr |
HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT, LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE, LCHAD) |
Whole Gene |
€ 1440,00 |
|
|
NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT mehr |
MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Sequencing |
€ 1020,00 |
|
|
NEUTROPENIA, SEVERE CONGENITAL mehr |
WAS |
Sequencing |
4 Weeks |
€ 594,00 |
|
NEUTROPENIA, SEVERE CONGENITAL, SCN mehr |
ELA2 (ELASTASE 2) |
Sequencing |
€ 840,00 |
|
|
Neutropenia, severe congenital, x-linked (XLN) mehr |
WAS |
Sequencing |
3 Weeks |
€ 1320,00 |
|
NEUTROPHILIC LEUKEMIA (CNL) mehr |
V617F Mutation in JAK2 |
Diagnostic |
€ 360,00 |
|
|
NIEMANN-PICK DISEASE, TYPE A mehr |
SMPD1 (SPHINGOMYELINASE) |
See also Molecular Screening Tests Table |
€ 180,00 |
|
|
NIEMANN-PICK DISEASE, TYPE A mehr |
SMPD1 (SPHINGOMYELINASE) |
See also Molecular Screening Tests Table |
€ 180,00 |
|
|
NIEMANN-PICK DISEASE, TYPE A mehr |
SMPD1 (SPHINGOMYELINASE) |
See also Molecular Screening Tests Table |
€ 1140,00 |
|
|
NIEMANN-PICK DISEASE, TYPE B mehr |
SMPD1 (SPHINGOMYELINASE) |
See also Molecular Screening Tests Table |
€ 180,00 |
|
|
NIEMANN-PICK DISEASE, TYPE B mehr |
SMPD1 (SPHINGOMYELINASE) |
See also Molecular Screening Tests Table |
€ 180,00 |
|
|
NIEMANN-PICK DISEASE, TYPE B mehr |
SMPD1 (SPHINGOMYELINASE) |
See also Molecular Screening Tests Table |
€ 1140,00 |
|
|
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A mehr |
NYX (NYCTALOPIN) |
Sequencing |
€ 1140,00 |
|
|
Niiemann Pick disease NPC1 mehr |
NPC1 |
Sequencing |
5 Weeks |
€ 2200,00 |
|
Niiemann Pick disease NPC2 mehr |
NPC2 |
Sequencing |
3 Weeks |
€ 550,00 |
|
NIJMEGEN BREAKAGE SYNDROME, NBS mehr |
NBS1 (NIBRIN) |
1 Mutation: 5bp Deletion (90% of mutations) |
€ 270,00 |
|
|
NIJMEGEN BREAKAGE SYNDROME, NBS mehr |
NBS1 (NIBRIN) |
Whole Gene |
€ 1920,00 |
|
|
NO DISEASE mehr |
CPT1B (CARNITINE PALMITOYLTRANSFERASE 1, MUSCLE) |
Sequencing |
€ 1920,00 |
|
|
NO DISEASE mehr |
MTATP8 (ATP SYNTHASE 8, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 8, ATP8) |
Sequencing |
€ 576,00 |
|
|
NO DISEASE mehr |
MTTM (TRANSFER RNA, MITOCHONDRIAL, METHIONINE) |
Sequencing |
€ 1020,00 |
|
|
NOG (NOGGIN) mehr |
NOG (NOGGIN) |
Sequencing |
€ 480,00 |
|
|
NON SMALL CELL LUNG CANCER (NSCLC) mehr |
EGFR (EPIDERMAL GROWTH FACTOR RECEPTOR) |
EXON 18-21 MUTATIONS (IRESSA /GEFITINIB) RESPONSIVENESS |
€ 756,00 |
|
|
NON SMALL CELL LUNG CANCER (NSCLC) mehr |
EGFR (EPIDERMAL GROWTH FACTOR RECEPTOR) |
Whole Gene |
€ 1680,00 |
|
|
NON SMALL CELL LUNG CANCER, NSCLC mehr |
EGFR (EPIDERMAL GROWTH FACTOR RECEPTOR) |
Whole Gene |
€ 1680,00 |
|
|
NON HODGKIN LYMPHOMA , NHL mehr |
ALK |
t(2;5) or variants |
€ 480,00 |
|
|
NON HODGKIN LYMPHOMA , NHL mehr |
BCL6 |
3q27 |
€ 480,00 |
|
|
NON HODGKIN LYMPHOMA , NHL mehr |
IgH break apart |
t(2;5) or variants |
€ 480,00 |
|
|
NON HODGKIN LYMPHOMA , NHL mehr |
PAX5 / IGH |
t(9;14) |
€ 480,00 |
|
|
NON SMALL CELL LUNG CANCER (NSCLC) mehr |
EXON 18-21 MUTATIONS IN EGFR (EPIDERMAL GROWTH FACTOR RECEPTOR) |
IRESSA / GEFITINIB RESPONSIVENESS |
€ 756,00 |
|
|
Non syndromic mitochondrial hearing loss and deafness mehr |
MTRNR1 |
Detection of the mutation 1555A>G in the mitochondrial gene MTRNR1 |
4 weeks |
€ 220,00 |
|
NONAKA DISTAL MYOPATHY mehr |
GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE) |
1 Mutation: M712T |
€ 480,00 |
|
|
NONAKA DISTAL MYOPATHY mehr |
GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE) |
Whole Gene |
€ 900,00 |
|
|
NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA mehr |
KRT1 (KERATIN 1) |
Hotspots |
€ 480,00 |
|
|
NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA mehr |
KRT1 (KERATIN 1) |
Whole Gene |
€ 1200,00 |
|
|
NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA mehr |
KRT16 and KRT17 (KERATIN 16 and KERATIN 17) |
Hotspots |
€ 960,00 |
|
|
NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA mehr |
KRT16 (KERATIN 16) |
Sequencing |
€ 1200,00 |
|
|
NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA mehr |
KRT17 (KERATIN 17) |
Sequencing |
€ 1200,00 |
|
|
NONKETOTIC HYPERGLYCINEMIA mehr |
AMT (AMINOMETHYLTRANSFERASE, GLYCINE CLEAVAGE SYSTEM T PROTEIN) |
Sequencing |
€ 840,00 |
|
|
NONKETOTIC HYPERGLYCINEMIA mehr |
GCSH (GLYCINE CLEAVAGE SYSTEM H PROTEIN) |
Sequencing |
€ 480,00 |
|
|
NONKETOTIC HYPERGLYCINEMIA mehr |
GLDC (GLYCINE DECARBOXYLASE, GLYCINE CLEAVAGE SYSTEM P PROTEIN) |
Sequencing |
€ 1920,00 |
|
|
NONSMALL CELL LUNG CANCER, SOMATIC mehr |
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) |
Sequencing |
€ 1200,00 |
|
|
NONSPECIFIC MENTAL RETARDATION (X-LINKED), MRX16 mehr |
MECP2 |
Deletion Analysis (MLPA) |
€ 504,00 |
|
|
NONSPECIFIC MENTAL RETARDATION (X-LINKED), MRX16 mehr |
MECP2 |
Whole Gene |
€ 600,00 |
|
|
NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS (MUENKE) mehr |
FGFR3 |
P250R mutation |
€ 360,00 |
|
|
Noonan syndrome mehr |
PTPN11 |
Sequencing of exons 2, 3 and 8 of the PTPN11 gene. This analysis covers 80 % of all described
mutations. |
€ 613,00 |
|
|
Noonan syndrome mehr |
RAF1 |
Sequencing of the 7, 14 and 17 exons of the RAF1 gene |
4 weeks |
€ 255,00 |
|
NOONAN SYNDROME mehr |
RAF1 (V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1) |
sequencing of the RAF1 gene |
6 weeks |
€ 1620,00 |
|
NOONAN SYNDROME mehr |
SOS1 |
Sequencing of the 7, 11 and 17 exons of the SOS1 gene |
4 weeks |
€ 255,00 |
|
NOONAN SYNDROME mehr |
SOS1 |
sequencing of the SOS1 gene |
7 weeks |
€ 1076,00 |
|
Noonan syndrome (NS1) mehr |
PTPN11 |
Sequencingselected exons |
3 Weeks |
€ 660,00 |
|
Noonan syndrome (NS1) mehr |
PTPN11 |
Sequencing |
3 Weeks |
€ 630,00 |
|
Noonan syndrome (NS1) mehr |
SOS1 |
Mutation scanning (DGGE); sequencing |
5 Weeks |
€ 1100,00 |
|
Noonan syndrome (NS1) mehr |
KRAS |
Sequencing |
3 Weeks |
€ 540,00 |
|
NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME mehr |
PTPN11, SOS1, RAF1, BRAF, MAP2K1, MAP2K2, HRAS and KRAS |
8 genes |
€ 1800,00 |
|
|
Norrie disease mehr |
- |
Chromosome X inactivation analysis |
4 weeks |
€ 440,00 |
|
NORRIE DISEASE mehr |
NDP (NORRIN) |
Sequencing |
€ 540,00 |
|
|
Norrie disease - Sequencing of NDP gene mehr |
NDP |
Complete sequencing of the NDP gene |
5 weeks |
€ 406,00 |
|
|
|
|
|
|
|
OBESITY mehr |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
Sequencing |
€ 576,00 |
|
|
OBESITY mehr |
PPARG (PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, PPARG1, PPARG2, PPARG3,
PAX8/PPARG FUSION GENE) |
2 Mutations: P12A and P115Q |
€ 300,00 |
|
|
Ocular Albinism Type 1 mehr |
GCDH |
Complete sequencing of the TYR gene |
6 weeks |
€ 792,00 |
|
Oculocutaneous Albinism Type 1 mehr |
TYR |
Complete sequencing of the TYR gene |
4-5 weeks |
€ 720,00 |
|
Oculocutaneous Albinism Type 2 mehr |
OCA2 |
Complete sequencing of the OCA2 gene |
6-8 weeks |
€ 990,00 |
|
OCULOCUTANEOUS ALBINISM, TYPE 2, OCA2 (TYROSINASE - POSITIVE) mehr |
OCA2 (P gene) |
Common Deletion |
€ 420,00 |
|
|
OCULOCUTANEOUS ALBINISM, TYPE 3, OCA3 mehr |
TYRP1 (TYROSINASE-RELATED PROTEIN 1; CATALASE B) |
Sequencing |
€ 960,00 |
|
|
OCULOCUTANEOUS ALBINISM, TYPE 4, OCA4 mehr |
SLC45A2 (SOLUTE CARRIER FAMILY 45, MEMBER 2, MATP (MEMBRANE-ASSOCIATED TRANSPORTER PROTEIN) |
Sequencing |
€ 1020,00 |
|
|
OCULODENTODIGITAL DYSPLASIA mehr |
GJA1 (GAP JUNCTION PROTEIN, ALPHA-1, CONNEXIN 43, CX43) |
Sequencing |
€ 396,00 |
|
|
Oculopharyngeal Muscular Dystrophy mehr |
PABPN1 |
Detection of CGC expansion in PABPN1 gene |
3 weeks |
€ 360,00 |
|
OLIGODENDROGLIOMA mehr |
PTEN |
Whole Gene and Deletions-Duplications |
€ 2040,00 |
|
|
OLIGODONTIA-COLORECTAL CANCER SYNDROME mehr |
AXIN2 (AXIS INHIBITOR 2, CONDUCTIN) |
Sequencing |
€ 960,00 |
|
|
OMENN SYNDROME mehr |
DCLRE1C (DNA CROSS-LINK REPAIR PROTEIN 1C, ARTEMIS) |
Sequencing |
€ 1800,00 |
|
|
OMENN SYNDROME mehr |
RAG2 (RECOMBINATION-ACTIVATING GENE 2) |
Testing of both RAG1 and RAG2 |
€ 2280,00 |
|
|
OPHTHALMOPLEGIA mehr |
MTTN (TRANSFER RNA, MITOCHONDRIAL, ASPARAGINE) |
Sequencing |
€ 1020,00 |
|
|
Opitz syndrome mehr |
MID1 |
Sequencing |
4 Weeks |
€ 810,00 |
|
OPITZ-KAVEGGIA SYNDROME mehr |
MED12 (MEDIATOR OF RNA POLYMERASE II TRANSCRIPTION, SUBUNIT 12, S. CEREVISIAE, HOMOLOG OF; TRINUCLEOTIDE REPEAT-CONTAINING GENE 11; THYROID HORMONE RECEPTOR-ASSOCIATED PROTEIN, 230-KD SUBUNIT) |
Exon 21 and 22, including the R961W Mutation |
€ 1080,00 |
|
|
OPITZ-KAVEGGIA SYNDROME mehr |
UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF NONSENSE TRANSCRIPTS 3B) |
Sequencing |
€ 1800,00 |
|
|
OPTIC ATROPHY 1 mehr |
OPA1 |
Sequencing |
€ 1440,00 |
|
|
ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY mehr |
OTC (ORNITHINE CARBAMOYL TRANSFERASE GENE) |
Sequencing |
€ 1080,00 |
|
|
OROFACIAL CLEFT, TYPE 5 mehr |
MSX1 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1) |
Sequencing |
€ 960,00 |
|
|
OROFACIODIGITAL SYNDROME, TYPE 1 mehr |
OFD1 (CHROMOSOME X OPEN READING FRAME 5; CXORF5) |
Sequencing |
€ 2040,00 |
|
|
OSSEOUS HETEROPLASIA, PROGRESSIVE mehr |
GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) |
Whole Gene |
€ 948,00 |
|
|
Osteogenesis imperfecta mehr |
COL1A1 |
Complete sequencing of COL1A1 gene |
8 weeks |
€ 630,00 |
|
Osteogenesis imperfecta mehr |
COL1A2 |
Complete sequencing of COL1A2 gene |
8 weeks |
€ 630,00 |
|
OSTEOGENESIS IMPERFECTA TYPE 1, OI1 mehr |
COL1A1 and COL1A2 |
Biochemical Test |
€ 720,00 |
|
|
OSTEOGENESIS IMPERFECTA TYPE 1, OI1 mehr |
COL1A1 and COL1A2 |
Whole Gene |
€ 1440,00 |
|
|
OSTEOGENESIS IMPERFECTA TYPE 2, OI2 mehr |
COL1A1 and COL1A2 |
Biochemical Test |
€ 720,00 |
|
|
OSTEOGENESIS IMPERFECTA TYPE 2, OI2 mehr |
COL1A1 and COL1A2 |
Whole Gene |
€ 1440,00 |
|
|
OSTEOGENESIS IMPERFECTA TYPE 3, OI3 mehr |
COL1A1 and COL1A2 |
Biochemical Test |
€ 720,00 |
|
|
OSTEOGENESIS IMPERFECTA TYPE 3, OI3 mehr |
COL1A1 and COL1A2 |
Whole Gene |
€ 1440,00 |
|
|
OSTEOGENESIS IMPERFECTA TYPE 4, OI4 mehr |
COL1A1 and COL1A2 |
Biochemical Test |
€ 720,00 |
|
|
OSTEOGENESIS IMPERFECTA TYPE 4, OI4 mehr |
COL1A1 and COL1A2 |
Whole Gene |
€ 1440,00 |
|
|
OSTEOGENESIS IMPERFECTA, TYPE 7, OI7 mehr |
CRTAP (CARTILAGE-ASSOCIATED PROTEIN) |
Sequencing |
€ 1020,00 |
|
|
OSTEOGENESIS IMPERFECTA, TYPE 8, OI8 mehr |
LEPRE1 (LEUCINE- AND PROLINE-ENRICHED PROTEOGLYCAN 1, LEPRECAN, PROLYL 3-HYDROXYLASE 1) |
Sequencing |
€ 1020,00 |
|
|
Osteopetrosis mehr |
CA2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 385,00 |
|
Osteopetrosis mehr |
CA2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
OSTEOPETROSIS (AUTOSOMAL RECESSIVE) mehr |
TCIRG1 (T CELL IMMUNE REGULATOR 1, TIRC7, IOC116) |
Sequencing |
€ 1632,00 |
|
|
OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS mehr |
CA2 (CARBONIC ANHYDRASE 2) |
Sequencing |
€ 600,00 |
|
|
Osteopetrosis, autosomal dominant type 2 (OPTA2) mehr |
CLCN7 |
Complete sequencing of CLCN7 gene |
4-6 weeks |
€ 1440,00 |
|
OSTEOPETROSIS, TYPE 4 (AUTOSOMAL RECESSIVE), OPTB4 mehr |
CLCN7 |
Sequencing |
€ 1920,00 |
|
|
Osteoporosis mehr |
Col1A1 |
G2046T |
1 Day - 2 Weeks |
€ 30,00 |
|
Osteoporosis, predisposition to mehr |
VDR-gene |
BsmI polymorphism |
1 Week |
€ 100,00 |
|
Osteoporosis/ renal Osteodystrophy mehr |
CASR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 385,00 |
|
Osteoporosis/ renal Osteodystrophy mehr |
CASR |
Multiplex Ligation-Dependent Probe Amplification; each of the 7 CASR exons. |
2-4 Weeks |
€ 385,00 |
|
Osteoporosis/ renal Osteodystrophy mehr |
CASR |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Osteoporosis/ renal Osteodystrophy mehr |
RXRA |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 550,00 |
|
Osteoporosis/ renal Osteodystrophy mehr |
VDR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 550,00 |
|
Osteoporosis/ renal Osteodystrophy mehr |
VDR |
Carrier testing |
2 Weeks |
€ 180,00 |
|
OSTEOSARCOMA mehr |
P53 (TP53) |
Exons 5-8 |
€ 300,00 |
|
|
OSTEOSARCOMA mehr |
P53 (TP53) |
Whole Gene |
€ 420,00 |
|
|
Otofaciocervical syndrome mehr |
EYA1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 990,00 |
|
Otopalatodigital syndrome mehr |
FLNA |
Screening of exons 3, 4 and 5 of FLNA gene |
5 weeks |
€ 396,00 |
|
OTOPALATODIGITAL SYNDROME, TYPE 1, OPD1 mehr |
FLNA (FILAMIN A) |
Exon 3 |
€ 360,00 |
|
|
OTOPALATODIGITAL SYNDROME, TYPE 2, OPD2 mehr |
FLNA (FILAMIN A) |
Exons 3, 5, 11, 22, 29, 45 |
€ 1440,00 |
|
|
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OSMED mehr |
COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) |
Sequencing |
€ 3960,00 |
|
|
OVARIAN DYSGENESIS TYPE 1, ODG1 mehr |
FSHR (FOLLICLE-STIMULATING HORMONE RECEPTOR; FSH RECEPTOR; OVARIAN HYPERSTIMULATION SYNDROME, MODERATOR OF SEVERITY OF) |
Sequencing |
€ 1920,00 |
|
|
|
|
|
|
|
PAI mehr |
PAI |
Snapshot |
1 Week |
€ 130,00 |
|
PALLISTER-HALL SYNDROME mehr |
GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
Deletions |
€ 420,00 |
|
|
PALLISTER-HALL SYNDROME mehr |
GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
Whole Gene |
€ 2040,00 |
|
|
PALMOPLANTAR KERATODERMA WITH DEAFNESS mehr |
GJB2 (CONNEXIN 26, CX26) |
Sequencing |
€ 240,00 |
|
|
PANCREATIC CARCINOMA mehr |
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) |
Sequencing |
€ 540,00 |
|
|
Pancreatitis, hereditary mehr |
SPINK1-gene |
Sequencing |
1 Week |
€ 770,00 |
|
Pancreatitis, hereditary mehr |
PRSS1-gene |
Sequencing of exons 2 and 3 |
5 Week |
€ 336,00 |
|
Pancreatitis, hereditary mehr |
SPINK1-andPRSS1gene |
MLPA-analysis |
1-2 Weeks |
€ 363,00 |
|
Pancreatitis, hereditary mehr |
CFTR-gene |
Screening for 36 mutations (dot blot) |
2 Weeks |
€ 913,00 |
|
Pancreatitis, hereditary mehr |
CFTR-gene |
MLPA |
2 Weeks |
€ 363,00 |
|
Pancreatitis, hereditary mehr |
CFTR-gene |
Sequencing |
2 Weeks |
€ 2365,00 |
|
Pancreatitis, hereditary (PCTT) mehr |
PRSS1 |
Sequencing of selected exons |
5 Weeks |
€ 330,00 |
|
Pancreatitis, hereditary (PCTT) mehr |
SPINK1 |
Sequencing of selected exons |
3 Weeks |
€ 330,00 |
|
Pancreatitis, hereditary (PCTT) mehr |
SPINK1 |
Mutation scanning of the exon 3 of the SPINK1 gene |
6 Weeks |
€ 240,00 |
|
Pantothenate kinase-associated neurodegeneration (PKAN) mehr |
PANK2 |
Sequencing |
3 Weeks |
€ 770,00 |
|
PARAGANGLIOMAS, PGL 3 mehr |
SDHC (SUCCINATE DEHYDROGENASE 3, SDH3) |
Sequencing |
€ 888,00 |
|
|
PARAGANGLIOMAS, PGL4 mehr |
SDHB (SUCCINATE DEHYDROGENASE 1, SDH1) |
Sequencing |
€ 900,00 |
|
|
Paramyotonia congenita mehr |
SCN4A |
Sequencing of selected exons |
4 Weeks |
€ 770,00 |
|
Paramyotonia congenita mehr |
SCN4A |
Sequencing |
4 Weeks |
€ 1925,00 |
|
PARAMYOTONIA WITHOUT COLD PARALYSIS mehr |
SCN4A |
Exons 9, 12-14, 19, 21-24 |
€ 1080,00 |
|
|
PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA mehr |
MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2) |
Sequencing |
€ 960,00 |
|
|
PARIETAL FORAMINA, TYPE 1 mehr |
MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2) |
Sequencing |
€ 960,00 |
|
|
PARIETAL FORAMINA, TYPE 2 mehr |
ALX4 (ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF) |
Sequencing |
€ 960,00 |
|
|
Parkinson mehr |
DJ1 |
Sequencing of the entire gene |
€ 798,00 |
|
|
Parkinson mehr |
LRRK2 |
Detection of the G2019S and R1441G mutations in the LRRK2 gene |
€ 331,00 |
|
|
Parkinson mehr |
PARK2 |
Sequencing of the entire gene |
€ 474,00 |
|
|
Parkinson mehr |
PINK1 |
Detection of the G309D mutation in the PINK1 gene |
€ 327,00 |
|
|
PARKINSON DISEASE mehr |
MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1) |
Sequencing |
€ 1320,00 |
|
|
PARKINSON DISEASE mehr |
MTTP (TRANSFER RNA, MITOCHONDRIAL, PROLINE) |
Sequencing |
€ 1020,00 |
|
|
PARKINSON DISEASE mehr |
MTTT (TRANSFER RNA, MITOCHONDRIAL, THREONINE) |
Sequencing |
€ 1020,00 |
|
|
Parkinson disease 8 (PARK8) mehr |
LRRK2 |
Sequencing (exon 31, 35, 41) |
1 Week |
€ 180,00 |
|
PARKINSON DISEASE, TYPE 1, PARK1 (AUTOSOMAL DOMINANT) mehr |
SNCA (ALPHA SYNUCLEIN) |
Deletions |
€ 540,00 |
|
|
PARKINSON DISEASE, TYPE 1, PARK1 (AUTOSOMAL DOMINANT) mehr |
SNCA (ALPHA SYNUCLEIN) |
Whole Gene |
€ 540,00 |
|
|
PARKINSON DISEASE, TYPE 2, PARK2 (AUTOSOMAL RECESSIVE) mehr |
PARKIN (PARK2) |
Deletions |
€ 1008,00 |
|
|
PARKINSON DISEASE, TYPE 2, PARK2 (AUTOSOMAL RECESSIVE) mehr |
PARKIN (PARK2) |
Whole Gene |
€ 1008,00 |
|
|
PARKINSON DISEASE, TYPE 4, PARK4 (AUTOSOMAL DOMINANT) mehr |
SNCA (ALPHA SYNUCLEIN) |
Deletions |
€ 540,00 |
|
|
PARKINSON DISEASE, TYPE 4, PARK4 (AUTOSOMAL DOMINANT) mehr |
SNCA (ALPHA SYNUCLEIN) |
Whole Gene |
€ 540,00 |
|
|
PARKINSON DISEASE, TYPE 6, PARK6 (AUTOSOMAL RECESSIVE) mehr |
PINK1 |
Deletions |
€ 864,00 |
|
|
PARKINSON DISEASE, TYPE 6, PARK6 (AUTOSOMAL RECESSIVE) mehr |
PINK1 |
Whole Gene |
€ 864,00 |
|
|
PARKINSON DISEASE, TYPE 7, PARK7 (AUTOSOMAL RECESSIVE) mehr |
DJ1 |
Deletions |
€ 756,00 |
|
|
PARKINSON DISEASE, TYPE 7, PARK7 (AUTOSOMAL RECESSIVE) mehr |
DJ1 |
Whole Gene |
€ 756,00 |
|
|
PARKINSON DISEASE, TYPE 8, PARK8 mehr |
LRRK2 (LEUCINE-RICH REPEAT KINASE) |
Exon 41 |
€ 420,00 |
|
|
PARKINSON DISEASE, TYPE 8, PARK8 mehr |
LRRK2 (LEUCINE-RICH REPEAT KINASE) |
Whole Gene |
€ 3600,00 |
|
|
PARKINSONISM / MELAS OVERLAP SYNDROME mehr |
MTCYB (CYTOCHROME b OF COMPLEX 3, COMPLEX 3, CYTOCHROME b SUBUNITUBIQUINONE-CYTOCHROME c OXIDOREDUCTASE, CYTOCHROME b SUBUNIT) |
Sequencing |
€ 576,00 |
|
|
PAROXYSMAL EXTREME PAIN DISORDER mehr |
SCN9A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT) |
Sequencing |
€ 1080,00 |
|
|
PAROXYSMAL NONKINESIGENIC DYSKINESIA mehr |
MR1 (MYOFIBRILLOGENESIS REGULATOR 1) |
Sequencing |
€ 1020,00 |
|
|
Partington syndrome mehr |
ARX |
Sequencing |
4 Weeks |
€ 495,00 |
|
PATAU SYNDROME mehr |
Chromosome 13 |
Sequencing |
€ 480,00 |
|
|
PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM mehr |
PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) |
Sequencing |
€ 480,00 |
|
|
PEDIATRIC ADRENOCORTICAL CARCINOMA mehr |
P53 (TP53) |
Exons 5-8 |
€ 300,00 |
|
|
PEDIATRIC ADRENOCORTICAL CARCINOMA mehr |
P53 (TP53) |
Whole Gene |
€ 420,00 |
|
|
PELIZAEUS-MERZBACHER DISEASE, PMD mehr |
PLP1 (PROTEOLIPID PROTEIN 1, PLP) |
Duplication |
€ 420,00 |
|
|
PELIZAEUS-MERZBACHER DISEASE, PMD mehr |
PLP1 (PROTEOLIPID PROTEIN 1, PLP) |
Whole Gene |
€ 780,00 |
|
|
PELIZAEUS-MERZBACHER-LIKE DISEASE, TYPE 1 (AUTOSOMAL RECESSIVE) mehr |
GJC2 (GAP JUNCTION PROTEIN, GAMMA-2; GJA12; CONNEXIN 47; CONNEXIN 46.6) |
Sequencing |
€ 600,00 |
|
|
PENDRED SYNDROME, PDS mehr |
SLC26A4 (PENDRIN) |
Sequencing |
€ 960,00 |
|
|
PERIDONTITIS mehr |
IL1A (INTERLEUKIN 1-ALPHA) and IL1B (INTERLEUKIN 1-BETA) |
IL1A-889 and IL1B+3953 |
€ 312,00 |
|
|
Periodic Fever, Familial Hibernian Fever mehr |
TNFRSF1A-gene |
Sequencing analysis of exon 2, 3, 4, 6, 7 and 10 |
€ 770,00 |
|
|
Periodic Fever, Familial Hibernian Fever mehr |
TNFRSF1A-gene |
Sequencing |
2-3 Weeks |
€ 1375,00 |
|
Periodic Fever, Familial mediterranean fever, FMF mehr |
MEVF-gene |
Analysis of exon 2 and 10 (ca. 90% detection rate) |
2 Weeks |
€ 330,00 |
|
Periodic Fever, Familial mediterranean fever, FMF mehr |
MEVF-gene |
Analysis of exon 1, 2, 3, 5, and 10 (>98% detection rate) |
2 Weeks |
€ 770,00 |
|
Periodic Fever, Familial mediterranean fever, FMF mehr |
MEVF-gene |
Analysis of exon 4, 6 - 9 |
2 Weeks |
€ 550,00 |
|
Periodic Fever, Familial mediterranean fever, FMF mehr |
MEVF-gene |
Analysis for deletions/duplications (MLPA) |
2 Weeks |
€ 363,00 |
|
Permanent neonatal diabetes mellitus mehr |
ABCC8 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Permanent neonatal diabetes mellitus mehr |
ABCC8 |
Multiplex Ligation-Dependent Probe Amplification;each exon of ABCC8 gene |
2-4 Weeks |
€ 385,00 |
|
Permanent neonatal diabetes mellitus mehr |
ABCC8 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Permanent neonatal diabetes mellitus mehr |
GCK |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 605,00 |
|
Permanent neonatal diabetes mellitus mehr |
GCK |
Multiplex Ligation-Dependent Probe Amplification; each exon of theGCK gene |
2-4 Weeks |
€ 385,00 |
|
Permanent neonatal diabetes mellitus mehr |
GCK |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Permanent neonatal diabetes mellitus mehr |
KCNJ11 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
Permanent neonatal diabetes mellitus mehr |
KCNJ11 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
PETERS ANOMALY mehr |
CYP1B1 (CYTOCHROME P450, SUBFAMILY 1, POLYPEPTIDE 1) |
See also CYP1B1, OPTN and MYOC |
€ 264,00 |
|
|
PETERS ANOMALY mehr |
FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) |
Deletion-Duplication |
€ 600,00 |
|
|
PETERS ANOMALY mehr |
FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) |
Whole Gene Sequencing |
€ 660,00 |
|
|
PETERS ANOMALY mehr |
PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2, PTX2) |
Deletion-Duplication Testing |
€ 600,00 |
|
|
PETERS ANOMALY mehr |
PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2, PTX2) |
Whole Gene Sequencing |
€ 720,00 |
|
|
PETERS ANOMALY mehr |
PAX6 (PAIRED BOX GENE 6) |
Whole Gene and Deletion Analysis (MLPA) |
€ 1320,00 |
|
|
PETERS-PLUS SYNDROME mehr |
B3GALTL (UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE, BETA-1,3-GLUCOSYLTRANSFERASE) |
Sequencing |
€ 1680,00 |
|
|
Peutz-Jeghers syndrome (PJS) mehr |
STK11 |
Sequencing |
3 Weeks |
€ 684,00 |
|
PEUTZ-JEGHERS SYNDROME, PJS mehr |
STK11 (SERINE THREONINE KINASE) |
Deletions - Duplications |
€ 600,00 |
|
|
Pfeiffer syndrome mehr |
FGFR1 |
Sequencing |
3 Weeks |
€ 1650,00 |
|
Pfeiffer syndrome mehr |
FGFR2 |
Sequencing |
3 Weeks |
€ 660,00 |
|
PFEIFFER SYNDROME mehr |
FGFR1 |
Selected exons. Also includes testing of selected exons of FGFR2 |
€ 600,00 |
|
|
PFEIFFER SYNDROME mehr |
FGFR2 |
Selected exons. Also includes testing of selected exons of FGFR1 |
€ 600,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: 5-@HYDROXYTRYPTAMINE TRANSPORTER (5-HTT, SLC6A4) mehr |
5-HTT, SLC6A4 |
L, S 44 bp insertion/deletion in the promotor region increased protein for L (insertion) variant increased activity for L variant |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*1C g.-3858G>A decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*1E g.-740T>G |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*1F g.-164C>A higher inducibility |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*1J g.-740T>G; g.-164C>A |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*1K g.-740T>G; g.-730C>T; g.-164C>A decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*1E, *1F, *1J, *1K |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*2 g.63C>G F21L |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*3 g.2116G>A D348N |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*4 g.2499A>G I348N |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*5 g.3497G>A C406Y |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*6 g.5090C>T R431W |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP1A2 mehr |
CYP1A2 |
*7 g.3534G>A splicing defect decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP2A6 mehr |
CYP2A6 |
*1H g.-745A>G |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP2A6 mehr |
CYP2A6 |
*2 c.479T>A L160H no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP2A6 mehr |
CYP2A6 |
*4 deletion no protein no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP2A6 mehr |
CYP2A6 |
*5 c.1436G>T G479V no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP2A6 mehr |
CYP2A6 |
*6 c.383G>A R128Q decreased acitity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP2A6 mehr |
CYP2A6 |
*9 c.-48T>G decreased protein decreased acitity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP2A6 mehr |
CYP2A6 |
*10 c.1412G>T, c.1454G>T I471T, R485L decreased acitity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) CYP2A6 mehr |
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) |
*7 c.1412T>G I471T decreased acitity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *10 mehr |
CYP2C19 |
*10 680C>T P227L decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *10 mehr |
CYP2C9 |
*10 c.815A>G E272G |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *10 mehr |
CYP3A4 |
*10 g.14304G>C D174H |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *10 mehr |
CYP3A5 |
*10 g.29753T>C splicing defect decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *11 mehr |
CYP2A6 |
*11 c.670T>C S224P decreased acitity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *11 mehr |
CYP2C19 |
*11 c.449G>A R150H |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *11 mehr |
CYP2C9 |
*11 c.1003C>T R335W decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *11 mehr |
CYP3A4 |
*11 g.21867C>T T363M |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *12 mehr |
CYP2A6 |
*12 partial deletion altered protein decreased acitity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *12 mehr |
CYP2C9 |
*12 c.1465C>T P489S decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *12 mehr |
CYP3A4 |
*12 g.21896C>T L373F |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *13 mehr |
CYP3A4 |
*13 g.22026C>T R416L |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *14 mehr |
CYP2D6 |
*14 g. 1758G>A G169R no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *14 mehr |
CYP3A4 |
*14 g.44T>C L15P |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *15 mehr |
CYP3A4 |
*15 g.14269G>A R162Q |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *16 mehr |
CYP2C9 |
*16 c.485C>A T299A decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *16 mehr |
CYP3A4 |
*16 g.15603C>G T185S |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *17 mehr |
CYP2A6 |
*17 c.1093G>A V365M decreased acitity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *17 mehr |
CYP2D6 |
*17 g. 1023C>T, g. 2850C>T T107I, R296C decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *17 mehr |
CYP3A4 |
*17 g.15615T>C F189S decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *18 mehr |
CYP2C9 |
*18 c.1075A>C I359L decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *18 mehr |
CYP3A4 |
*18 g.20070T>C L293P increased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *19 mehr |
CYP3A4 |
*19 g.23237C>T P467S |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *1B mehr |
CYP3A4 |
*1B g.-392A>G |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *1C mehr |
CYP2E1 |
*1C 6 minisat |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *1C mehr |
CYP3A7 |
*1C c.-291G>T; -284T>A; -282T>C; -281A>T; -270T>G; -262T>A; -232A>C increased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *1C, *1D mehr |
CYP2E1 |
*1C, *1D |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *1D mehr |
CYP2E1 |
*1D 8 minisat increased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *1x2 mehr |
CYP2A6 |
*1x2 gene duplication increased protein increased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2 mehr |
CYP2B6 |
*2 c.64C>T R22C |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2 mehr |
CYP2C19 |
*2 c.681G>A splicing defect no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2 mehr |
CYP2C8 |
*2 c.805A>T I269F increased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2 mehr |
CYP2C9 |
*2 c.430C>T R144C decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2 mehr |
CYP2E1 |
*2 g.1132G>A R76H decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2 mehr |
CYP2J2 |
*2 c.427A>G T143A decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2 mehr |
CYP3A4 |
*2 g.15713T>C S222P decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2 mehr |
CYP3A5 |
*2 g.27289C>A T398N |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2 mehr |
CYP3A7 |
*2 c.1226C>G T409R increased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2 mehr |
CYP4B1 |
*2 c.881-882delAT frameshift |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2, *2B, *3, *4, *5, *6, *7, *8, mehr |
CYP2C19 |
*2, *2B, *3, *4, *5, *6, *7, *8, *9, *10, *11 poor metaboliser |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2, *3, *4, *5, * 6, *11 mehr |
CYP2C9 |
*2, *3, *4, *5, * 6, *11 poor metaboliser |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *2, *3, *4, *5, *6, *7, *8, *9, * mehr |
CYP2D6/CYP2C19 AmpiChip 450 (Roche Diagnostics) |
*2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *14A, *14B, *15, *17, *19, *20, *25, *26, *29, *30, *31, *35, *36, *40, *41, 1XN, 2XN, 4XN, 10XN, 17XN, 35XN, 41XN + CYP2C19*2, *3 poor and ultrafast metaboliser |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *20 mehr |
CYP2D6 |
*20 g. 1973insG Frameshift no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *21 mehr |
CYP2D6 |
*21 g. 2573insC Frameshift no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *24 mehr |
CYP2D6 |
*24 g. 2853A>C I297L |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *3 mehr |
CYP2B6 |
*3 c.777C>A S259R |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *3 mehr |
CYP2C19 |
*3 c.636G>A W212X no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *3 mehr |
CYP2C8 |
*3 c.416G>A, c.1196A>G R139K, K399R decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *3 mehr |
CYP2C9 |
*3 c.1075A>C I359L decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *3 mehr |
CYP2D6 |
*3 g.2549delA Frameshift no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *3 mehr |
CYP2J2 |
*3 c.472C>T R158C decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *3 mehr |
CYP3A4 |
*3 g.23172T>C M445T |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *3, *4, *5, *6, *7, *8, *9, *14, mehr |
CYP2D6 |
*3, *4, *5, *6, *7, *8, *9, *14, *19 poor metaboliser |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *3, *4, *5, *6, *7, *8, *9, *14, mehr |
CYP2D6 |
*3, *4, *5, *6, *7, *8, *9, *14, *19, *XN poor and ultrafast metaboliser |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *38 mehr |
CYP2D6 |
*38 g. 2587-2590delGACT Frameshift no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *3B mehr |
CYP2D6 |
*3B g.1749A>G, g.2549delA N166D, frameshift no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *3C mehr |
CYP3A5 |
*3C g.6986G>A splicing defect no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *4 mehr |
CYP2B6 |
*4 c.785A>G K262R |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *4 mehr |
CYP2C19 |
*4 c.1A>G start codon mutation no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *4 mehr |
CYP2C8 |
*4 c.792C>G I264M |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *4 mehr |
CYP2C9 |
*4 c.1076T>C I359T decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *4 mehr |
CYP2D6 |
*4 g.1846G>A splicing defect no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *4 mehr |
CYP2J2 |
*4 c.575T>A I192N decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *4 mehr |
CYP3A4 |
*4 g.13871A>G I118V |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *4 mehr |
CYP3A5 |
*4 g.14665A>G Q200R |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *44 mehr |
CYP2D6 |
*44 g.2950G>C splicing defect no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *5 mehr |
CYP2B6 |
*5 c.1459C>T R487C |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *5 mehr |
CYP2C19 |
*5 c.1297G>A R433W no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *5 mehr |
CYP2C8 |
*5 c.475delA T159fs177X no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *5 mehr |
CYP2C9 |
*5 c.1080C>G D360E decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *5 mehr |
CYP2D6 |
*5 gene deletion no protein no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *5 mehr |
CYP2E1 |
*5 g.-1293G>C, g.-1053C>T |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *5 mehr |
CYP2J2 |
*5 c.1024G>A D342N decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *5 mehr |
CYP3A4 |
*5 g.15702C>G P218R |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *5 mehr |
CYP3A5 |
*5 g.12952T>C splicing defect |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *6 mehr |
CYP2B6 |
*6 c.516G>T, c.785A>G Q172H, K262R |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *6 mehr |
CYP2C19 |
*6 c.395G>A R132Q no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *6 mehr |
CYP2C9 |
*6 c.818delA Frameshift no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *6 mehr |
CYP2D6 |
*6 g.1701delT Frameshift no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *6 mehr |
CYP2E1 |
*6 g.7632T>A |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *6 mehr |
CYP2J2 |
*6 c.1210A>T N404Y decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *6 mehr |
CYP3A4 |
*6 g.17662-17663insA frameshift |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *6 mehr |
CYP3A5 |
*6 g.14690G>A splicing defect no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *7 mehr |
CYP2B6 |
*7 c.516G>T, c.785A>G, c.1459C>T Q172H, K262R, R487C |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *7 mehr |
CYP2C19 |
*7 1VS5+2T>A splicing defect no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *7 mehr |
CYP2C8 |
*7 c.556C>T R186X no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *7 mehr |
CYP2C9 |
*7 c.55C>A L19I |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *7 mehr |
CYP2D6 |
*7 g.2935A>C H374P no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *7 mehr |
CYP2J2 |
*7 g.-76G>T decreased protein decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *7 mehr |
CYP3A4 |
*7 g.6004G>A G56D |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *7 mehr |
CYP3A5 |
*7 g.27131-27132insT frameshift |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *8 mehr |
CYP2B6 |
*8 c.415A>G K139E decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *8 mehr |
CYP2C19 |
*8 c.358T>C W120R no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *8 mehr |
CYP2C8 |
*8 c.556C>G R186G decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *8 mehr |
CYP2C9 |
*8 c.449G>A R150H increased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *8 mehr |
CYP2D6 |
*8 g.1758G>T Stop codon no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *8 mehr |
CYP3A4 |
*8 g.13908G>A R130Q |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *8 mehr |
CYP3A5 |
*8 g.3699C>T R28C decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *9 mehr |
CYP2B6 |
*9 c.516G>T Q172H |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *9 mehr |
CYP2C19 |
*9 c.431G>A R144H decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *9 mehr |
CYP2C9 |
*9 c.752A>G H251R |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *9 mehr |
CYP2D6 |
*9 g.2613-2615delAGA K281del decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *9 mehr |
CYP3A4 |
*9 g.14292G>A V170I |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *9 mehr |
CYP3A5 |
*9 g.19386G>A A337T decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Cytochrome P450 (CYP) *XN mehr |
CYP2D6 |
*XN gene amplification increased protein ultrafast metaboliser |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Epoxidhydroxylases (EPHX) *3 mehr |
EPHX1 |
*3 c.337T>C Y113H |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Epoxidhydroxylases (EPHX) *4 mehr |
EPHX1 |
*4 c.416A>G H139R |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Epoxidhydroxylases (EPHX) n.a. mehr |
EPHX1 |
n.a. c.128G>C R43T |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Epoxidhydroxylases (EPHX) n.a. mehr |
EPHX2 |
n.a. c.229A>G K55R increased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Epoxidhydroxylases (EPHX) n.a. mehr |
EPHX2 |
n.a. c.307C>T R103C |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Epoxidhydroxylases (EPHX) n.a. mehr |
EPHX2 |
n.a. c.461G>A C154 increased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Epoxidhydroxylases (EPHX) n.a. mehr |
EPHX2 |
n.a. c.860G>A R287Q decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Epoxidhydroxylases (EPHX) n.a. mehr |
EPHX2 |
n.a. c.1208-1209insTCG 403-404insR decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Glutathione S-transferases (GST) *0 mehr |
GSTM1 |
*0 gene deletion no protein no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Glutathione S-transferases (GST) *0 mehr |
GSTT1 |
*0 gene deletion no protein no activity (request price) |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Glutathione S-transferases (GST) *A mehr |
GSTP1 |
*A wild type (request price) |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Glutathione S-transferases (GST) *A mehr |
GSTT1 |
*A wild type (request price) |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Glutathione S-transferases (GST) *B mehr |
GSTP1 |
*B c.313A>G I105V (request price) |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Glutathione S-transferases (GST) *B mehr |
GSTT1 |
*B c.301A>C T104P (request price) |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Glutathione S-transferases (GST) *C mehr |
GSTP1 |
*C c.313A>G, c.341C>T I105V, A114V (request price) |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: MULTIDRUG RESISTANCE 1 ( MDR1, ABCB1) not applicable mehr |
MDR1, ABCB1 |
not applicable 1236C>T decreased protein devreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: MULTIDRUG RESISTANCE 1 ( MDR1, ABCB1) not applicable mehr |
MDR1, ABCB1 |
not applicable 2677G>T or 2677G>A A893S or A893T decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: MULTIDRUG RESISTANCE 1 ( MDR1, ABCB1) not applicable mehr |
MDR1, ABCB1 |
not applicable 3435C>T decreased protein decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *10 mehr |
NAT2 |
*10 c.499G>A E167K |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *11B mehr |
NAT2 |
*11B c.481C>T;859del Frameshift |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *12 mehr |
NAT2 |
*12 c.803A>G K268R |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *13 mehr |
NAT2 |
*13 c.282C>T none |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *14 mehr |
NAT2 |
*14 c.191G>A R64Q decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *17 mehr |
NAT2 |
*17 c.434A>C Q145P decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *18 mehr |
NAT2 |
*18 c.845A>C K282T |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *19 mehr |
NAT2 |
*19 c.190C>T R64W |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *4 mehr |
NAT2 |
*4 wild type |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *4, *5, *6, *7, *10, mehr |
NAT2 |
*4, *5, *6, *7, *10, *11B, *12, *13, *14, *17, *18, *19 |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *5 mehr |
NAT2 |
*5 c.341T>C I114T decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *6 mehr |
NAT2 |
*6 c.590G>T R197Q decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: N-Acetyltransferase type 2 (NAT2) *7 mehr |
NAT2 |
*7 c.857G>A G286E decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Sulfonyl transferases (SULT) *2 mehr |
SULT1A1 |
*2 638 G>A R213H decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Sulfonyl transferases (SULT) *2 mehr |
SULT1A2 |
*2 20 T>C I7T |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Sulfonyl transferases (SULT) *2, *3 mehr |
SULT1A1 |
*2, *3 |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Sulfonyl transferases (SULT) *2, *3 mehr |
SULT1A2 |
*2, *3 |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Sulfonyl transferases (SULT) *3 mehr |
SULT1A1 |
*3 667 G>A M223V |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Sulfonyl transferases (SULT) *3 mehr |
SULT1A2 |
*3 56 T>C P19L |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Thiopurine methyltransferases (TPMT) *2 mehr |
TPMT |
*2 c.288G>C A80P decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Thiopurine methyltransferases (TPMT) *3A mehr |
TPMT |
*3A c.460G>A, c.719A>G A154T, Y240C decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Thiopurine methyltransferases (TPMT) *3B mehr |
TPMT |
*3B c.719A>G Y240C decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Thiopurine methyltransferases (TPMT) *3C mehr |
TPMT |
*3C c.719A>G A154T decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *1 mehr |
UGT1A1 |
*1 promoter repeat [TA] 6 wild type |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *1 mehr |
UGT1A6 |
*1 wild type |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *1 mehr |
UGT1A7 |
*1 wild type |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *1, *2 mehr |
UGT1A7 |
*1, *2, *3, *4 |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *2 mehr |
UGT1A6 |
*2 637A>G, 648A>C T181A, R184S decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *2 mehr |
UGT1A7 |
*2 387T>G, 391C>A, 392G>A N129K, R131K decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *2 mehr |
UGT2B15 |
*2 276T>G D85Y increased activity on androgens |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *2 mehr |
UGT2B4 |
*2 1411T>A D458E no activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *2 mehr |
UGT2B7 |
*2 816C>T H268Y decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *28 mehr |
UGT1A1 |
*28 promoter repeat [TA] 7 decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *28, * mehr |
UGT1A1 |
*28, *36, *37 |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *3 mehr |
UGT1A7 |
*3 387T>G, 391C>A, 392G>A, 622T>C N129K, R131K,W208R decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *36 mehr |
UGT1A1 |
*36 promoter repeat [TA] 5 increased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *37 mehr |
UGT1A1 |
*37 promoter repeat [TA] 8 decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *4 mehr |
UGT1A7 |
*4 622T>C W208R decreased activity |
€ 0,00 |
|
|
Pharmacogenetic Tests - Other Disciplines 2: Uridine diphosphate-glucoronyltransferases (UGT) *6 mehr |
UGT1A1 |
*6 226A>G G71R decreased activity |
€ 0,00 |
|
|
Phenylketonuria, classic mehr |
PKU;PKU-gene |
Sequencing |
1-2 Weeks |
€ 675,00 |
|
Phenylketonuria, classic mehr |
PKU;PKU-gene |
MLPA analysis |
1-2 Weeks |
€ 363,00 |
|
PHENYLKETONURIA, PKU mehr |
PAH� (PHENYLALANINE HYDROXYLASE) |
Exons 3, 4, 5, 7 and 12 |
€ 384,00 |
|
|
PHEOCHROMOCYTOMA mehr |
VHL |
Whole Gene and Deletions-Duplications |
€ 720,00 |
|
|
PHKG1 (PHOSPHORYLASE KINASE, MUSCLE, GAMMA-1) mehr |
PHKG1 (PHOSPHORYLASE KINASE, MUSCLE, GAMMA-1) |
(request price) |
€ 0,00 |
|
|
PICK DISEASE OF BRAIN mehr |
MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU) |
Whole Gene |
€ 1800,00 |
|
|
PIEBALD TRAIT mehr |
KIT (V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG, MAST CELL GROWTH FACTOR RECEPTOR, STEM CELL FACTOR RECEPTOR) |
Sequencing |
€ 1080,00 |
|
|
Pierson syndrome mehr |
LAMB2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Pierson syndrome mehr |
LAMB2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY mehr |
CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1) |
Sequencing |
€ 1530,00 |
|
|
PITT-HOPKINS SYNDROME mehr |
TCF4 (TRANSCRIPTION FACTOR 4) |
(request price) |
€ 0,00 |
|
|
Pituary hormone deficiency mehr |
PIT1 |
Sequencing |
3 Weeks |
€ 550,00 |
|
Pituary hormone deficiency mehr |
PROP1 |
Sequencing |
3 Weeks |
€ 385,00 |
|
Pituary hormone deficiency mehr |
HESX1 |
Sequencing |
3 Weeks |
€ 440,00 |
|
PITUITARY DWARFISM 1 mehr |
GH1 (GROWTH HORMONE 1, GH) |
Sequencing |
€ 480,00 |
|
|
PITUITARY DWARFISM 2 mehr |
GHR (GROWTH HORMONE RECEPTOR, GROWTH HORMONE-BINDING PROTEIN, GHBP) |
Sequencing |
€ 1200,00 |
|
|
PITUITARY DWARFISM 3 mehr |
HESX1 (HOMEOBOX GENE EXPRESSED IN ES CELLS) |
Sequencing |
€ 480,00 |
|
|
PITUITARY DWARFISM 3 mehr |
LHX3 (LIM HOMEOBOX GENE 3, LIM3) |
Sequencing |
€ 480,00 |
|
|
PITUITARY DWARFISM 4 mehr |
GH1 (GROWTH HORMONE 1, GH) |
Sequencing |
€ 480,00 |
|
|
PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY (AUTOSOMAL DOMINANT) mehr |
GH1 (GROWTH HORMONE 1, GH) |
Sequencing |
€ 480,00 |
|
|
PITUITARY HORMONE DEFICIENCY, COMBINED mehr |
POU1F1 (POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1, GROWTH HORMONE FACTOR 1, PIT1) |
Sequencing |
€ 840,00 |
|
|
PITUITARY TUMOR, SOMATOTROPHINOMA mehr |
GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) |
Sequencing |
€ 948,00 |
|
|
Plasminogen Activator Inhibitor 1 mehr |
PLG |
Complete sequencing of the PLG gene |
€ 1015,00 |
|
|
Plasminogen activator inhibitor type1, PAI-1 mehr |
PAI-1-gene |
4G/5G insertion/deletion polymorphism |
1-2 Days |
€ 90,00 |
|
PLEKHG4 (PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4; PURATROPHIN 1) mehr |
PLEKHG4 (PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4; PURATROPHIN 1) |
Exon 1: (c.-16C>T) |
€ 300,00 |
|
|
PLEKHG4 (PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4; PURATROPHIN 1) mehr |
PLEKHG4 (PLECKSTRIN HOMOLOGY DOMAIN-CONTAINING PROTEIN, FAMILY G, MEMBER 4; PURATROPHIN 1) |
Whole Gene |
€ 2040,00 |
|
|
PNEUMOTHORAX, PRIMARY SPONTANEOUS mehr |
FLCN (FOLLICULIN, FLCL) |
Sequencing |
€ 1740,00 |
|
|
POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL DOMINANT), PKD, ADPKD mehr |
PKD1 (POLYCYSTIN 1) and PKD2 (POLYCYSTIN 2) |
2 Genes |
€ 3960,00 |
|
|
POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL RECESSIVE), ARPKD mehr |
PKHD1 (FIBROCYSTIN, POLYDUCTIN) |
Various Exons (80% of Mutations) |
€ 2640,00 |
|
|
Polycystic Kidney Disease, autosomal recessiv mehr |
PKHD1 |
Mutation screening in exons 3, 36 and 58 of the PKHD1 gene |
3 Weeks |
€ 504,00 |
|
Polycystic kidney disease, autosomal recessive mehr |
PKHD1 |
Mutation screening in exons 3, 9, 16, 32, 34, 36, 37, 57, 58, 60 and 61 of the PKHD1 gene |
5 weeks |
€ 1512,00 |
|
Polycystic kidney disease, autosomal recessive mehr |
PKHD1 |
Mutation screening in exons 3, 9, 16, 22, 24, 27, 30, 32, 34, 36, 37, 43, 50, 53, 54, 57, 58, 60, 61 of the PKHD1 gene |
5 weeks |
€ 1824,90 |
|
Polycystic kidney disease, autosomal recessive mehr |
PKHD1 |
Mutation screening in exons 3, 36 and 58 of PKHD1 gene |
5 weeks |
€ 521,40 |
|
Polycystic kidney disease, autosomal recessive mehr |
PKHD1 |
Complete sequencing of the PKHD1 gene |
5-10 weeks |
€ 3128,40 |
|
Polycythemia Vera mehr |
JAK2 |
Detection of the V617F mutation |
4 weeks |
€ 236,00 |
|
POLYDACTYLY, POSTAXIAL, TYPE A1 mehr |
GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
Deletions |
€ 420,00 |
|
|
POLYDACTYLY, POSTAXIAL, TYPE A1 mehr |
GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
Whole Gene |
€ 2040,00 |
|
|
POLYDACTYLY, PREAXIAL 4 mehr |
GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
Deletions |
€ 420,00 |
|
|
POLYDACTYLY, PREAXIAL 4 mehr |
GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) |
Whole Gene |
€ 2040,00 |
|
|
POLYMICROGYRIA, BILATERAL FRONTOPARIETAL mehr |
GPR56 (G PROTEIN-COUPLED RECEPTOR 56, TM7XN1) |
Sequencing |
€ 1200,00 |
|
|
POLYPOSIS SYNDROME, HEREDITARY MIXED, TYPE 2 mehr |
BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3) |
Sequencing |
€ 2520,00 |
|
|
POLYPOSIS, JUVENILE INTESTINAL mehr |
SMAD4 (DPC4) |
Sequencing |
€ 1140,00 |
|
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A, PCH2A mehr |
TSEN54 (tRNA SPLICING ENDONUCLEASE 54, S. CEREVISIAE, HOMOLOG OF; SEN54) |
Sequencing |
€ 1800,00 |
|
|
PONTOCEREBELLAR HYPOPLASIA, TYPE 4, PCH4 mehr |
TSEN54 (tRNA SPLICING ENDONUCLEASE 54, S. CEREVISIAE, HOMOLOG OF; SEN54) |
Sequencing |
€ 1800,00 |
|
|
Poor and ultrafast metaboliser mehr |
CYP2D6 |
*3, *4, *5, *6, *7, *8, *9, *14, *19, *XN (request price) |
€ 0,00 |
|
|
Poor and ultrafast metaboliser mehr |
CYP2D6 CYP2C19 |
AMPLICHIP CYP450 WITH 34 ALLELES OF CYP2D6/CYP2C19
CYP2D6 alleles: *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *14A, *14B, *15, *17, *19, *20, *25, *26, *29, *30, *31, *35, *36, *40, *41, 1XN, 2XN, 4XN, 10XN, 17XN, 35XN, 41XN
CYP2C19 alleles: *2, *3 (re |
€ 0,00 |
|
|
Poor metaboliser mehr |
CYP2C19 |
*2, *2B, *3, *4, *5, *6,*7*8, *9, *10, *11 (request price) |
€ 0,00 |
|
|
Poor metaboliser mehr |
CYP2C9 |
*2, *3,*4, *5,* 6, *11 (request price) |
€ 0,00 |
|
|
Poor metaboliser mehr |
CYP2D6 |
*3, *4, *5, *6, *7, *8, *9, *14, *19 (request price) |
€ 0,00 |
|
|
POPLITEAL PTERYGIUM SYNDROME mehr |
IRF6 |
Selected Exons |
€ 480,00 |
|
|
PORENCEPHALY, FAMILIAL mehr |
COL4A1 |
Deletion-Duplication |
€ 960,00 |
|
|
PORENCEPHALY, FAMILIAL mehr |
COL4A1 |
Whole Gene |
€ 1920,00 |
|
|
PORPHYRIA CUTANEA TARDA mehr |
UROD (UROPORPHYRINOGEN DECARBOXYLASE) |
Sequencing |
€ 720,00 |
|
|
Porphyria variegata mehr |
PPOX |
Complete sequencing of PPOX gene |
5 weeks |
€ 540,00 |
|
Porphyria, acute intermittent mehr |
HMBS |
Sequencing |
3 Weeks |
€ 540,00 |
|
PORPHYRIA, CONGENITAL ERYTHROPOIETIC mehr |
UROS (UROPORPHYRINOGEN III SYNTHASE) |
Sequencing |
€ 720,00 |
|
|
PPP2R2B (PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA) mehr |
PPP2R2B (PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA) |
Sequencing |
€ 180,00 |
|
|
Prader-Willi syndrome mehr |
SNRPN-genelocus |
Methylation analysis of the SNRPN-gene locus by MLPA |
1-2 Weeks |
€ 572,00 |
|
Prader-Willi syndrome (PW) mehr |
15q11-q13 |
Methylation analysis;deletions (MLPA*) |
2 Weeks |
€ 230,00 |
|
PRADER-WILLI SYNDROME mehr |
PWS |
Methylation |
€ 336,00 |
|
|
PRADER-WILLI SYNDROME mehr |
PWS |
Deletion of Imprinting Centre |
€ 480,00 |
|
|
PRECOCIOUS PUBERTY, MALE-LIMITED mehr |
LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR ) |
Sequencing |
€ 1200,00 |
|
|
PREGNANCY LOSS, SUSCEPTIBILITY TO mehr |
SYCP3 (SYNAPTONEMAL COMPLEX PROTEIN 3) |
Sequencing |
€ 840,00 |
|
|
PRENATAL TESTING mehr |
Targeted CGH Array |
CGH CHIP - Prenatal Testing |
€ 1560,00 |
|
|
PRESENILE DEMENTIA WITH BONE CYSTS mehr |
TREM2 |
Sequencing |
€ 240,00 |
|
|
PRIMARY CILIARY DYSKINESIA, TYPE 3 mehr |
DNAH5 (DYNEIN, AXONEMAL, HEAVY CHAIN 5) |
All 61 known Mutations in DNAH5 and DNAI1 |
€ 960,00 |
|
|
PRIMARY CILIARY DYSKINESIA, TYPE 3 mehr |
DNAI1 (DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1) |
All 61 known Mutations in DNAH5 and DNAI1 |
€ 960,00 |
|
|
Primary Microcephaly, autosomal recessive mehr |
MCPH1 |
Detection of the S25X mutation in the MCPH1 gene |
4 Weeks |
€ 261,00 |
|
Primary Microcephaly, autosomal recessive mehr |
MCPH1 |
Complete sequencing of the MCPH1 gene |
7 weeks |
€ 1490,00 |
|
Primary open angle glaucoma mehr |
LOXL |
SNP rs3825942 |
1 Day - 2 Weeks |
€ 30,00 |
|
PRKCG (PROTEIN KINASE C, GAMMA, PKCC) mehr |
PRKCG (PROTEIN KINASE C, GAMMA, PKCC) |
Sequencing |
€ 1440,00 |
|
|
Profound Bilateral Hypoacusia mehr |
OTOF |
Mutation scanning in the exons 13 and 21 of the OTOF gene |
€ 490,00 |
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), TYPE 1 mehr |
POLG (POLYMERASE, DNA, GAMMA) |
Sequencing |
€ 1440,00 |
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), TYPE 3 mehr |
C10ORF2 (CHROMOSOME 10 OPEN READING FRAME 2, T7 GENE 4-LIKE PROTEIN WITH INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION, TWINKLE) |
Sequencing |
€ 780,00 |
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), TYPE 4 mehr |
POLG2 (POLYMERASE, DNA, GAMMA-2; POLGB) |
Sequencing |
€ 780,00 |
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL RECESSIVE) mehr |
POLG (POLYMERASE, DNA, GAMMA) |
Sequencing |
€ 1440,00 |
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, (AUTOSOMAL DOMINANT), TYPE 2 mehr |
SLC25A4 (SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER), MEMBER 4, ADENINE NUCLEOTIDE TRANSLOCATOR 1, ANT1 ADP/ATP TRANSLOCATOR OF SKELETAL MUSCLE, ADP/ATP TRANSLOCASE 1) |
Sequencing |
€ 600,00 |
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC mehr |
C10ORF2 (CHROMOSOME 10 OPEN READING FRAME 2, T7 GENE 4-LIKE PROTEIN WITH INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION, TWINKLE) |
Sequencing |
€ 780,00 |
|
|
Progressive pseudorheumatoid arthropathy of childhood (PPAC) mehr |
WISP3 |
Sequencing |
3 Weeks |
€ 480,00 |
|
PROOPIOMELANOCORTIN DEFICIENCY mehr |
POMC (PROOPIOMELANOCORTIN) |
Sequencing |
€ 300,00 |
|
|
PROPIONIC ACIDEMIA mehr |
PCCA (PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT) |
PCCA and PCCB |
€ 2400,00 |
|
|
PROPIONIC ACIDEMIA mehr |
PCCB (PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT) |
PCCA and PCCB |
€ 2400,00 |
|
|
PROSTATE CANCER mehr |
BRCA1 |
Whole Gene (sequencing and MLPA) |
€ 840,00 |
|
|
PROSTATE CANCER mehr |
BRCA1 and BRCA2 |
MLPA |
€ 480,00 |
|
|
PROSTATE CANCER mehr |
BRCA1 and BRCA2 |
2 Whole Genes (sequencing and MLPA) |
€ 1920,00 |
|
|
PROSTATE CANCER mehr |
BRCA2 |
3 Common Askhenazi Jewish Mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2) |
€ 480,00 |
|
|
PROSTATE CANCER mehr |
BRCA2 |
Whole Gene (sequencing and MLPA) |
€ 1200,00 |
|
|
Prostate cancer, predisposition to mehr |
5-alpha-reductase;SRD5A2-gene |
Analysis for A49T and V89L polymorphisms |
1 Week |
€ 190,00 |
|
PROTEUS SYNDROME mehr |
PTEN |
Whole Gene and Deletions-Duplications |
€ 2040,00 |
|
|
PROTOPORPHYRIA, ERYTHROPOIETIC mehr |
FECH (FERROCHELATASE) |
Sequencing |
€ 720,00 |
|
|
PROXIMAL SYMPHALANGISM mehr |
NOG (NOGGIN) |
Sequencing |
€ 480,00 |
|
|
PSEUDO-VON WILLEBRAND DISEASE mehr |
GP1BA (GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE, GLYCOCALICIN) |
Sequencing |
€ 420,00 |
|
|
PSEUDOACHONDROPLASIA mehr |
COMP |
Exons 13, 14 and 16 (70 % of mutations) |
€ 732,00 |
|
|
Pseudoachondroplasia (PSACH) mehr |
COMP |
Sequencing |
3-4 Weeks |
€ 1650,00 |
|
PSEUDOARYLSULFATASE A DEFICIENCY mehr |
ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE) |
Deletion-Duplication |
€ 720,00 |
|
|
PSEUDOARYLSULFATASE A DEFICIENCY mehr |
ARSA (ARYLSULFATASE A, CEREBROSIDE-SULFATASE) |
Whole Gene |
€ 1020,00 |
|
|
Pseudohypoaldosteronism type 2 mehr |
WNK4 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 880,00 |
|
Pseudohypoaldosteronism type 2 mehr |
WNK4 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Pseudohypoaldosteronism type 2 mehr |
WNK1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Pseudohypoaldosteronism type 2 mehr |
WNK1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Pseudohypoaldosteronism type1 mehr |
SCNN1B |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 660,00 |
|
Pseudohypoaldosteronism type1 mehr |
SCNN1B |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Pseudohypoaldosteronism type1, Autosomal recessive mehr |
SCNN1A |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 660,00 |
|
Pseudohypoaldosteronism type1, Autosomal recessive mehr |
SCNN1A |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Pseudohypoaldosteronism type1: Autosomal recessive mehr |
NR3C2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Pseudohypoaldosteronism type1; Autosomal recessive mehr |
NR3C2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 550,00 |
|
Pseudohypoaldosteronism type1; Autosomal recessive mehr |
SCNN1G |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 660,00 |
|
Pseudohypoaldosteronism type1; Autosomal recessive mehr |
SCNN1G |
Carrier testing |
2 Weeks |
€ 180,00 |
|
PSEUDOHYPOALDOSTERONISM, TYPE 1 (AUTOSOMAL RECESSIVE) mehr |
SCNN1B |
Sequencing |
€ 1080,00 |
|
|
PSEUDOHYPOALDOSTERONISM, TYPE I mehr |
NR3C2 |
Sequencing |
4 Weeks |
€ 720,00 |
|
Pseudohypoparathyroidism type IB mehr |
STX16 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 495,00 |
|
Pseudohypoparathyroidism type IB mehr |
STX16 |
Multiplex Ligation-Dependent Probe Amplification; Ex.1,3,5,6,8 |
2-4 Weeks |
€ 385,00 |
|
Pseudohypoparathyroidism type IB mehr |
STX16 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Pseudohypoparathyroidism type IB mehr |
GNAS |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 715,00 |
|
Pseudohypoparathyroidism type IB mehr |
GNAS |
Methylation test |
2-4 Weeks |
€ 230,00 |
|
Pseudohypoparathyroidism type IB mehr |
GNAS |
Multiplex Ligation-Dependent Probe Amplification; Ex 1, CPG island (Ex.1A), 2,3,4,6,7,11,13 |
2-4 Weeks |
€ 385,00 |
|
Pseudohypoparathyroidism type IB mehr |
GNAS |
Carrier testing |
2 Weeks |
€ 180,00 |
|
PSEUDOHYPOPARATHYROIDISM, TYPE 1B mehr |
GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) |
Methylation |
€ 300,00 |
|
|
PSEUDOHYPOPARATHYROIDISM, TYPE 1B mehr |
STX16 (SYNTAXIN 16) |
Deletion-Duplication |
€ 420,00 |
|
|
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, PPSH mehr |
SRD5A2 (STEROID 5-ALPHA-REDUCTASE 2) |
Sequencing |
€ 312,00 |
|
|
Pseudoxanthoma elasticum mehr |
ABCC6 |
Detection of the deletion in exons 23-29 and complete sequencing of ABCC6 gene |
8-10 weeks |
€ 2232,00 |
|
Pseudoxanthoma elasticum mehr |
ABCC6 |
Screening of mutations of exons 24 and 28 andexon 23-29 deletion detection in ABCC6 gene |
6 weeks |
€ 608,30 |
|
Pseudoxanthoma elasticum mehr |
ABCC6 |
Screening of mutations in exons 21, 24, 27, 28, 29 and 30 and detection of the deletion in exons 23-29 in ABCC6 gene |
6 weeks |
€ 618,00 |
|
Pseudoxanthoma elasticum mehr |
ABCC6 |
Screening of mutations of the 24 and 28 exons in the ABCC6 gene |
4 Weeks |
€ 420,00 |
|
PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL DOMINANT), PXE mehr |
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6) |
Deletion Exons 23 -29 representing 10% of mutations |
€ 360,00 |
|
|
PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL DOMINANT), PXE mehr |
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6) |
R1141X representing 30% of mutations |
€ 360,00 |
|
|
PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE mehr |
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6) |
Deletion Exons 23 -29 representing 10% of mutations |
€ 360,00 |
|
|
PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE mehr |
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6) |
R1141X representing 30% of mutations |
€ 360,00 |
|
|
PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE mehr |
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6) |
Whole Gene |
€ 3000,00 |
|
|
PTA DEFICIENCY mehr |
F11 (FACTOR 11, COAGULATION FACTOR 11) |
Sequencing |
€ 444,00 |
|
|
PTEN HAMARTOMA TUMOR SYNDROME mehr |
PTEN |
Whole Gene and Deletions-Duplications |
€ 2040,00 |
|
|
Pulmonary hypertension (primary) mehr |
BMPR2 |
Complete sequencing of BMPR2 gene |
4 weeks |
€ 922,00 |
|
PYCNODYSOSTOSIS mehr |
CTSK (CATHEPSIN K) |
Sequencing |
€ 720,00 |
|
|
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE mehr |
PSTPIP1 (PROLINE/ SERINE/ THREONINE PHOSPHATASE-INTERACTING PROTEIN 1) |
Sequencing |
€ 1920,00 |
|
|
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY mehr |
PNPO (PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE, PYRIDOXAMINE-PHOSPHATE OXIDASE) |
Sequencing |
€ 960,00 |
|
|
PYRUVATE DECARBOXYLASE DEFICIENCY mehr |
PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1) |
Sequencing |
€ 1200,00 |
|
|
|
|
|
|
|
QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) mehr |
QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) |
Sequencing |
€ 240,00 |
|
|
QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) mehr |
QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) |
Sequencing |
€ 240,00 |
|
|
QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) mehr |
QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) |
Sequencing |
€ 240,00 |
|
|
|
|
|
|
|
RABSON-MENDENHALL SYNDROME mehr |
INSR (INSULIN RECEPTOR) |
Sequencing |
€ 2880,00 |
|
|
RAPADILINO SYNDROME mehr |
RECQL4 (RECQ PROTEIN-LIKE 4, DNA HELICASE, RECQ-LIKE, TYPE 4 ) |
Sequencing |
€ 1920,00 |
|
|
Recesive Multiple Epiphyseal Dysplasia mehr |
SLC26A2 |
Mutations screening of 9R279W, IVS1+2T>C and C6535 in the SLC26A2 gene |
3 Weeks |
€ 418,00 |
|
REEP1 (RECEPTOR EXPRESSION-ENHANCING PROTEIN 1) mehr |
REEP1 (RECEPTOR EXPRESSION-ENHANCING PROTEIN 1) |
Sequencing |
€ 1080,00 |
|
|
REFSUM DISEASE mehr |
PEX7 (PEROXISOME BIOGENESIS FACTOR 7) |
Sequencing |
€ 600,00 |
|
|
REFSUM DISEASE, INFANTILE FORM mehr |
PEX1 (PEROXISOME BIOGENESIS FACTOR 1) |
Exons 13 and 15 |
€ 720,00 |
|
|
REFSUM DISEASE, INFANTILE FORM mehr |
PEX2, PEX10, PEX12 and PEX26 |
PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3) |
€ 1560,00 |
|
|
REIFENSTEIN SYNDROME mehr |
AR (ANDROGEN RECEPTOR) |
Whole Gene |
€ 594,00 |
|
|
RENAL AGENESIS mehr |
RET (RET KINASE) |
Whole Gene |
€ 1800,00 |
|
|
RENAL CELL CARCINOMA 1 mehr |
VHL |
Whole Gene and Deletions-Duplications |
€ 720,00 |
|
|
RENAL CELL CARCINOMA NEUROBLASTOMA mehr |
3p25 |
Sequencing |
€ 480,00 |
|
|
RENAL CELL CARCINOMA PHEOCHROMOCYTOMA NEUROBLASTOMA mehr |
1p36 |
Sequencing |
€ 480,00 |
|
|
RENAL CELL CARCINOMA, PAPILLARY mehr |
MET (MET PROTOONCOGENE; HEPATOCYTE GROWTH FACTOR RECEPTOR) |
Sequencing |
€ 2640,00 |
|
|
Renal Glucosuria mehr |
SLC5A2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 440,00 |
|
Renal Glucosuria mehr |
SLC5A2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
RENAL HYPOPLASIA mehr |
PAX2 (PAIRED BOX GENE 2) |
Sequencing |
€ 1656,00 |
|
|
Renal Hypouricemia mehr |
SLC22A12 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 440,00 |
|
Renal Hypouricemia mehr |
SLC22A12 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Renal tubular acidosis mehr |
ATP6VOA4 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1100,00 |
|
Renal tubular acidosis mehr |
ATP6VOA4 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Renal tubular acidosis mehr |
ATP6V1B1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 840,00 |
|
Renal tubular acidosis mehr |
ATP6V1B1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Renal tubular acidosis mehr |
CA2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 385,00 |
|
Renal tubular acidosis mehr |
CA2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Renal tubular acidosis mehr |
SLC4A4 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Renal tubular acidosis mehr |
SLC4A4 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Renal tubular acidosis type 3 with osteopetrosis mehr |
CA2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 385,00 |
|
Renal tubular acidosis type 3 with osteopetrosis mehr |
CA2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL DOMINANT) mehr |
SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) |
Sequencing |
€ 1200,00 |
|
|
RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL RECESSIVE) mehr |
ATP6V0A4 (ATP6N2 VACUOLAR PROTEIN PUMP, SUBUNIT 2, VPP |
Sequencing |
€ 1368,00 |
|
|
RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL RECESSIVE) mehr |
SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) |
Sequencing |
€ 1200,00 |
|
|
RENAL TUBULAR DYSGENESIS mehr |
ACE (ANGIOTENSIN I-CONVERTING ENZYME;DIPEPTIDYL CARBOXYPEPTIDASE 1, KININASE 2) |
Sequencing |
€ 2160,00 |
|
|
RENAL TUBULAR DYSGENESIS mehr |
AGT (ANGIOTENSINOGEN, SERPINA8, ANGIOTENSIN) |
Sequencing |
€ 840,00 |
|
|
RENAL TUBULAR DYSGENESIS mehr |
AGTR1 (ANGIOTENSIN RECEPTOR 1) |
Sequencing |
€ 480,00 |
|
|
RENAL TUBULAR DYSGENESIS mehr |
REN (RENIN) |
Sequencing |
€ 1560,00 |
|
|
RENAL-COLOBOMA SYNDROME mehr |
PAX2 (PAIRED BOX GENE 2) |
Sequencing |
€ 1656,00 |
|
|
Rendu-Osler-Weber syndrome mehr |
ACVRL1 |
Complete sequencing of the ACVRL1 |
€ 630,00 |
|
|
RESISTANCE TO HIV (HUMAN IMMUNODEFICIENCY VIRUS TYPE 1) mehr |
CCR5 |
1 Mutation: DEL32 BP |
€ 276,00 |
|
|
RETINAL CONE DYSTROPHY, TYPE 3B mehr |
KCNV2 (POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY 5, MEMBER 2) |
Sequencing |
€ 1200,00 |
|
|
RETINAL DYSTROPHY, EARLY-ONSET SEVERE mehr |
LRAT (LECITHIN RETINOL ACYLTRANSFERASE) |
Sequencing |
€ 240,00 |
|
|
RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT), LEBER CONGENITAL AMAUROSIS, CONE-ROD DYSTROPHY mehr |
CA4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX |
RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT) CHIP 341 positions |
€ 720,00 |
|
|
RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE), LEBER CONGENITAL AMAUROSIS, CONE-ROD DYSTROPHY mehr |
CERKL, CNGA1, CNGB1, MERTK, PDE6A, PDE6B, PNR, RDH12, RGR, RLBP1, SAG, TULP1, CRB1, RPE65, USH2A, USH3A |
RETINITIS PIGMENTOSA (AUTOSOMAL RECESSIVE) CHIP 501 positions |
€ 720,00 |
|
|
Retinitis pigmentosa 1 (RP1) mehr |
RP1 |
Sequencing |
3 Weeks |
€ 1045,00 |
|
RETINITIS PIGMENTOSA 10, RP10 mehr |
IMPDH1 (IMP DEHYDROGENASE 1;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE 1) |
Sequencing |
€ 840,00 |
|
|
RETINITIS PIGMENTOSA 11, RP11 mehr |
PRPF31 (PRP31, PRECURSOR mRNA-PROCESSING FACTOR 31, S. CEREVISIAE, HOMOLOG OF) |
Sequencing |
€ 840,00 |
|
|
RETINITIS PIGMENTOSA 12, RP12 mehr |
CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1) |
Sequencing |
€ 1530,00 |
|
|
Retinitis pigmentosa 13 (RP13) mehr |
PRPF8 |
Sequencing |
3 Weeks |
€ 3720,00 |
|
Retinitis pigmentosa 14 (RP14) mehr |
PRPH2 |
Sequencing |
3 Weeks |
€ 1320,00 |
|
RETINITIS PIGMENTOSA 15, RP15 mehr |
RPGR (RETINITIS PIGMENTOSA GTPase REGULATOR) |
Exons 1-15 and ORF15 |
€ 1056,00 |
|
|
Retinitis pigmentosa 18 (RP18) mehr |
HPRP3 |
Sequencing |
3 Weeks |
€ 1375,00 |
|
RETINITIS PIGMENTOSA 2 (X-LINKED) mehr |
RP2 |
Sequencing |
€ 300,00 |
|
|
RETINITIS PIGMENTOSA 20, RP20 mehr |
RPE65 (RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD) |
Sequencing |
€ 540,00 |
|
|
RETINITIS PIGMENTOSA 3, RP3 mehr |
RPGR (RETINITIS PIGMENTOSA GTPase REGULATOR) |
Exons 1-15 and ORF15 |
€ 1056,00 |
|
|
Retinitis pigmentosa 4 (RP4) mehr |
RHO |
Sequencing |
3 Weeks |
€ 440,00 |
|
RETINITIS PIGMENTOSA 7, RP7 mehr |
PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) |
Sequencing |
€ 480,00 |
|
|
RETINITIS PIGMENTOSA TYPE 39, RP39 mehr |
USH2A |
Exon 13 |
€ 444,00 |
|
|
RETINITIS PIGMENTOSA, MERTK-RELATED mehr |
MERTK (MER TYROSINE KINASE PROTOONCOGENE) |
Sequencing |
€ 960,00 |
|
|
Retinoblastoma mehr |
RB1 |
Complete sequencing of RB1 gene |
6 weeks |
€ 660,00 |
|
Retinoblastoma mehr |
RB1 |
Detection of large deletions and/or duplications in RB1 gene |
4 weeks |
€ 1176,00 |
|
Retinoschisis1, X-linked, juvenile (RS1) mehr |
RS1 |
Sequencing |
3 Weeks |
€ 715,00 |
|
Rett syndrome mehr |
MECP2-gene |
MLPA analysis |
2 Weeks |
€ 363,00 |
|
Rett syndrome (RTT) mehr |
MECP2 |
Sequencing; deletions (MLPA*) |
4 Weeks |
€ 1100,00 |
|
Rett syndrome (RTT) mehr |
MECP2 |
Complete sequencing of MECP2 gene |
5 weeks |
€ 450,00 |
|
RETT SYNDROME, ATYPICAL mehr |
CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9) |
Sequencing |
€ 1440,00 |
|
|
RETT SYNDROME, CONGENITAL VARIANT mehr |
FOXG1 (FORKHEAD BOX G1; BRAIN FACTOR 1) |
Sequencing |
€ 960,00 |
|
|
RETT SYNDROME mehr |
MECP2 |
Deletion Analysis (MLPA) |
€ 504,00 |
|
|
RHEUMATOID ARTHRITIS mehr |
SLC22A4 |
Intron 1 SNP |
€ 144,00 |
|
|
RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO mehr |
SLC22A4 (SOLUTE CARRIER FAMILY 22 (ORGANIC CATION TRANSPORTER), MEMBER 4; OCTN1) |
Sequencing |
€ 840,00 |
|
|
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 mehr |
PEX7 (PEROXISOME BIOGENESIS FACTOR 7) |
Sequencing |
€ 600,00 |
|
|
Rickets mehr |
CYP27B1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 495,00 |
|
Rickets mehr |
CYP27B1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Rickets mehr |
PHEX |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1100,00 |
|
Rickets mehr |
PHEX |
Multiplex Ligation-Dependent Probe Amplification; each exon of thePHEX gene |
2-4 Weeks |
€ 385,00 |
|
Rickets mehr |
PHEX |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Rickets mehr |
RXRA |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 550,00 |
|
Rickets mehr |
VDR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 550,00 |
|
Rickets mehr |
VDR |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Rickets, Vitamin D-dependent mehr |
CYP27B1 |
Sequencing |
3 Weeks |
€ 744,00 |
|
Rieger syndrome (RIEG1) mehr |
PITX2 |
Sequencing |
4 Weeks |
€ 660,00 |
|
RIEGER SYNDROME, TYPE 1, RIEG1 mehr |
FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) |
Deletion-Duplication |
€ 600,00 |
|
|
RIEGER SYNDROME, TYPE 1, RIEG1 mehr |
FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) |
Whole Gene Sequencing |
€ 660,00 |
|
|
RIEGER SYNDROME, TYPE 1, RIEG1 mehr |
PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2, PTX2) |
Deletion-Duplication Testing |
€ 600,00 |
|
|
RIEGER SYNDROME, TYPE 1, RIEG1 mehr |
PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2, PTX2) |
Whole Gene Sequencing |
€ 720,00 |
|
|
RIPPLING MUSCLE DISEASE 2, RMD mehr |
CAV3 (CAVEOLIN 3) |
Sequencing |
€ 240,00 |
|
|
ROBINOW SYNDROME (AUTOSOMAL RECESSIVE) mehr |
ROR2 (NTRKR2) |
Whole Gene |
90 days |
€ 914,00 |
|
ROBINOW-SORAUF SYNDROME mehr |
TWIST |
Sequencing |
€ 600,00 |
|
|
ROTHMUND-THOMSON SYNDROME mehr |
RECQL4 (RECQ PROTEIN-LIKE 4, DNA HELICASE, RECQ-LIKE, TYPE 4 ) |
Sequencing |
€ 1920,00 |
|
|
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA mehr |
MPZ (MYELIN PROTEN ZERO, P0) |
Sequencing |
€ 600,00 |
|
|
ROUTINE CYTOGENETIC ANALYSIS mehr |
ROUTINE CYTOGENETIC ANALYSIS |
Sequencing |
€ 480,00 |
|
|
ROUTINE CYTOGENETIC ANALYSIS AND QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) mehr |
ROUTINE CYTOGENETIC ANALYSIS AND QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) |
Sequencing |
€ 480,00 |
|
|
ROUTINE CYTOGENETIC ANALYSIS AND QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) mehr |
ROUTINE CYTOGENETIC ANALYSIS AND QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) |
Sequencing |
€ 480,00 |
|
|
ROUTINE CYTOGENETIC ANALYSIS AND QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) mehr |
ROUTINE CYTOGENETIC ANALYSIS AND QUANTITATIVE FLUORESCENT PCR ( QF-PCR ) |
Sequencing |
€ 480,00 |
|
|
RUBINSTEIN-TAYBI SYNDROME mehr |
CREBBP (CREB-BINDING PROTEIN, CBP) |
Whole Gene |
€ 1620,00 |
|
|
Rubinstein-Taybi syndrome (RSTS) mehr |
CREBBP |
Sequencing, deletion testing (MLPA) |
6-7 Weeks |
€ 2420,00 |
|
RUBINSTEIN-TAYBI, RSTS mehr |
16p13.3 deletion |
Sequencing |
€ 480,00 |
|
|
|
|
|
|
|
SACS (SACSIN) mehr |
SACS (SACSIN) |
2 French Canadian Mutations: 6594delT and 5254 C>T |
€ 300,00 |
|
|
SADDAN DYSPLASIA mehr |
FGFR3 |
Sequencing |
€ 600,00 |
|
|
SAETHRE-CHOTZEN SYNDROME mehr |
FGFR3 |
Sequencing |
€ 600,00 |
|
|
SAETHRE-CHOTZEN SYNDROME mehr |
TWIST |
Complete sequencing of the TWIST gene |
€ 378,00 |
|
|
Salla disease mehr |
SLC17A5 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 605,00 |
|
Salla disease mehr |
SLC17A5 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
SANDHOFF DISEASE mehr |
HEXB (HEXOSAMINIDASE B) |
Sequencing |
€ 2040,00 |
|
|
Sanfillippo syndrome (Mucopolysaccharidosis type IIIB) mehr |
NAGLU |
Sequencing |
1-3 Weeks |
€ 825,00 |
|
SCA1, SCA2, SCA3, SCA6 mehr |
SCA1, SCA2, SCA3, SCA6 |
Screening for Repeats in 4 SCA Genes |
€ 600,00 |
|
|
SCA8, SCA10, SCA12, SCA17 mehr |
SCA8, SCA10, SCA12, SCA17 |
Screening for Repeats in 5 SCA Genes |
€ 528,00 |
|
|
SCAD DEFICIENCY mehr |
ACADS (ACYL-CoA DEHYDROGENASE, SHORT-CHAIN) |
Sequencing |
€ 1200,00 |
|
|
SCHAD deficiency (HADH deficiency) mehr |
HADH |
Sequencing |
3 Weeks |
€ 660,00 |
|
SCHILBACH-ROTT SYNDROME mehr |
SEPT9 (SEPTIN 9) |
Sequencing |
€ 1380,00 |
|
|
Schimke Immunoosseous dysplasia mehr |
SMARCAL1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 825,00 |
|
SCHIZENCEPHALY mehr |
EMX2 (EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF) |
Sequencing |
€ 720,00 |
|
|
SCHWARTZ-JAMPEL SYNDROME, TYPE 1 mehr |
HSPG2 (PERLECAN, HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE) |
Sequencing |
€ 5280,00 |
|
|
Screening for 9 Mitochondrial Mutations: CPEO, KEARNS-SAYRE SYNDROME, LHON, LEIGH SYNDROME, MELAS SY mehr |
9 Mutations: 4977 bp Deletion, G3460A, G11778A, T8993C, T8993G, A3271G, A3243G, T8356C, A8344G |
Sequencing |
€ 780,00 |
|
|
SEBASTIAN SYNDROME mehr |
MYH9 (MYOSIN, HEAVY CHAIN 9) |
Sequencing |
€ 1680,00 |
|
|
SECOND TRIMESTER SCREENING mehr |
ALPHA FOETO PROTEIN (AFP), HUMAN CHORIONIC GONAOTROPIN (HCG) and OESTRIOL |
Sequencing |
€ 120,00 |
|
|
SEDL (SEDLIN) mehr |
SEDL (SEDLIN) |
Sequencing |
€ 708,00 |
|
|
SEGAWA SYNDROME (AUTOSOMAL RECESSIVE) mehr |
TH (TYROSINE HYDROXYLASE) |
Sequencing |
€ 1380,00 |
|
|
SEIZURES AND LACTIC ACIDOSIS mehr |
MTATP6 (ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6) |
Sequencing |
€ 576,00 |
|
|
Seizures, benign familial neonatal-infantile mehr |
SCN2A |
Mutation scanning (DGGE); sequencing |
8-10 Weeks |
€ 2750,00 |
|
SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE mehr |
SCN2A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 2, ALPHA SUBUNIT) |
Sequencing |
€ 2640,00 |
|
|
SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY DUE TO mehr |
ZAP70 (ZETA-CHAIN-ASSOCIATED PROTEIN KINASE, SYK-RELATED TYROSINE KINASE) |
Sequencing |
€ 1200,00 |
|
|
Senior Locken Syndrome 6 mehr |
CEP290 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1430,00 |
|
Senior Locken Syndrome 6 mehr |
CEP290 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
SENIOR-LOKEN SYNDROME mehr |
NPHP1 (NEPHROCYSTIN 1) |
Sequencing |
€ 1440,00 |
|
|
SENIOR-LOKEN SYNDROME 4 mehr |
NPHP4 (NEPHROCYSTIN 4, NEPHRORETININ) |
Sequencing |
€ 1620,00 |
|
|
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SANDO mehr |
C10ORF2 (CHROMOSOME 10 OPEN READING FRAME 2, T7 GENE 4-LIKE PROTEIN WITH INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION, TWINKLE) |
Sequencing |
€ 780,00 |
|
|
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SANDO mehr |
POLG (POLYMERASE, DNA, GAMMA) |
Sequencing |
€ 1440,00 |
|
|
Septooptic Dysplasia (SOD) mehr |
HESX1 |
Sequencing |
3 Weeks |
€ 440,00 |
|
SETX (SENATAXIN) mehr |
SETX (SENATAXIN) |
Sequencing |
€ 1200,00 |
|
|
Sever myoclonic epilepsy of infancy (SMEI) mehr |
SCN1A |
Mutation scanning (DGGE); sequencing; deletions (MLPA*) |
5 Weeks |
€ 1650,00 |
|
SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-PO mehr |
RAG1 (RECOMBINATION-ACTIVATING GENE 1) |
Testing of both RAG1 and RAG2 |
€ 2280,00 |
|
|
SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NE mehr |
JAK3 (JANUS KINASE 3) |
Sequencing |
€ 1920,00 |
|
|
SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-PO mehr |
CD3D (CD3 ANTIGEN, DELTA SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, DELTA SUBUNIT OF T3) |
Sequencing |
€ 960,00 |
|
|
SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-PO mehr |
CD3E (CD3 ANTIGEN, EPSILON SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, EPSILON SUBUNIT OF T3) |
Sequencing |
€ 960,00 |
|
|
SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-PO mehr |
IL7R (INTERLEUKIN 7 RECEPTOR) |
Sequencing |
€ 960,00 |
|
|
SEVERE COMBINED IMMUNODEFICIENCY (X-LINKED), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE, SCI mehr |
IL2RG (INTERLEUKIN 2 RECEPTOR, GAMMA) |
Sequencing |
€ 1020,00 |
|
|
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION, SCID mehr |
DCLRE1C (DNA CROSS-LINK REPAIR PROTEIN 1C, ARTEMIS) |
Sequencing |
€ 1800,00 |
|
|
SEVERE COMBINED IMMUNODEFICIENCY, (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-N mehr |
ADA (ADENOSINE DEAMINASE, ADENOSINE AMINOHYDROLASE) |
Sequencing |
€ 960,00 |
|
|
Severe myoclonic epilepsy mehr |
SCN1A |
Complete sequencing of the SCN1A gene |
7 weeks |
€ 968,00 |
|
SEVERE MYOCLONIC EPILEPSY OF INFANCY mehr |
SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) |
Whole Gene and Deletions-Duplications |
€ 2184,00 |
|
|
SEX-CHROMOSOME ANEUPLOIDIES mehr |
Chromosome X / Y |
Sequencing |
€ 480,00 |
|
|
SHH (SONIC HEDGEHOG) mehr |
SHH (SONIC HEDGEHOG) |
See also SHH, SIX3, TGIF and ZIC2 |
€ 600,00 |
|
|
Short QT Syndrome mehr |
Sequencing of 5 genes: KCNH2, KCNQ1, KCNJ2, CACNA1C, CACNA1B |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 2900,00 |
|
SHORT QT SYNDROME 3, SQT3 mehr |
KCNJ2 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2, KIR2.1) |
Sequencing |
€ 960,00 |
|
|
SHORT STATURE mehr |
SHOX (SHORT STATURE HOMEOBOX) |
MLPA for Deletions-Duplications of SHOX and PAR1 |
€ 660,00 |
|
|
SHORT STATURE mehr |
SHOX (SHORT STATURE HOMEOBOX) |
Whole Gene |
€ 660,00 |
|
|
SHORT STATURE, IDIOPATHIC (AUTOSOMAL) mehr |
GH1 (GROWTH HORMONE 1, GH) |
Sequencing |
€ 480,00 |
|
|
SHORT STATURE, IDIOPATHIC (AUTOSOMAL) mehr |
GHR (GROWTH HORMONE RECEPTOR, GROWTH HORMONE-BINDING PROTEIN,GHBP) |
Sequencing |
€ 1200,00 |
|
|
SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA mehr |
LHX4 (LIM HOMEOBOX GENE 4, LHX4, LHX4/IGHG1 FUSION GENE) |
Sequencing |
€ 780,00 |
|
|
SHORT STATURE, SS mehr |
Xpter - p22.32 deletion |
Sequencing |
€ 480,00 |
|
|
SHPHRINTZEN?GOLDBERG CRANIOSYNOSTOSIS SYNDROME mehr |
FBN1 (FIBRILLIN 1) |
Deletions-Duplications |
€ 480,00 |
|
|
SHPHRINTZEN?GOLDBERG CRANIOSYNOSTOSIS SYNDROME mehr |
FBN1 (FIBRILLIN 1) |
Whole Gene |
€ 1800,00 |
|
|
Shwachman-Diamond syndrome mehr |
SBDS |
Complete sequencing of SBDS gene |
5 weeks |
€ 667,00 |
|
SIALURIA mehr |
GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE) |
1 Mutation: M712T |
€ 480,00 |
|
|
SIALURIA mehr |
GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE) |
Whole Gene |
€ 900,00 |
|
|
SIALURIA, FINNISH TYPE mehr |
SLC17A5 |
Sequencing |
€ 696,00 |
|
|
SICKLE CELL ANEMIA mehr |
HBB (BETA GLOBIN) |
Sequencing |
€ 360,00 |
|
|
Sickle cell disease mehr |
HBB-gene |
Analysis of the E6V and E6K mutation |
1 Week |
€ 90,00 |
|
SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC mehr |
MTCO1 (COMPLEX 4, CYTOCHROME c OXIDASE SUBUNIT 1, CYTOCHROME c OXIDASE 1; COX1) |
Sequencing |
€ 948,00 |
|
|
SILVER-RUSSELL SYNDROME mehr |
ICR1 |
Combined testing of epimutation at ICR1 on chromosome 11p15 and Uniparental disomy of chromosome 7 |
€ 600,00 |
|
|
SILVER-RUSSELL SYNDROME mehr |
MEST (PEG1) |
Uniparental disomy Study by Methylation Analysis |
€ 234,00 |
|
|
Simple epidermolysis bullosa mehr |
KRT5 |
Sequencing of exons 1, 5 and 7 of the KRT5 gene |
3 weeks |
€ 289,00 |
|
Simple epidermolysis bullosa mehr |
KRT14 |
Sequencing of exons 1, 4 and 6 of the KRT14 gene |
4 weeks |
€ 348,70 |
|
Simple epidermolysis bullosa mehr |
KRT5 |
Complete sequencing og KRT5 gene |
4-6 weeks |
€ 900,00 |
|
Simple epidermolysis bullosa mehr |
KRT5 |
Sequencing of exons 1, 4 and 6 of the KRT14 gene |
4 weeks |
€ 288,00 |
|
Simpson-Golabi-Behmel syndrome (SGBS1) mehr |
GPC3 |
Sequencing, deletion MLPA |
3 Weeks |
€ 1120,00 |
|
SIMPSON-GOLABI-BEHMEL SYNDROME, SGBS mehr |
GPC3 (GLYPICAN 3) |
Deletion analysis |
€ 720,00 |
|
|
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 mehr |
OFD1 (CHROMOSOME X OPEN READING FRAME 5; CXORF5) |
Sequencing |
€ 2040,00 |
|
|
SJOGREN-LARSSON SYNDROME mehr |
ALDH3A2 (FALDH, ALDH10) |
Sequencing |
€ 1704,00 |
|
|
SKIN FRAGILITY-WOOLLY HAIR SYNDROME mehr |
DSP (DESMOPLAKIN) |
See also PKP2, DSP, DSG2, DSC2 PANEL |
€ 600,00 |
|
|
SMITH-FINEMAN-MYERS MENTAL RETARDATION SYNDROME mehr |
ATRX (XNP) |
Sequencing |
€ 1800,00 |
|
|
Smith-Lemli-Opitz syndrome mehr |
DHCR7 |
Sequencing |
€ 630,00 |
|
|
SMITH-MAGENIS SYNDROME mehr |
RAI1 (RETINOIC ACID-INDUCED GENE 1, RAI1) |
Sequencing |
€ 2040,00 |
|
|
Smith-Magenis syndrome (SMS) mehr |
17p11.2;RAI1 |
Deletion testing (MLPA) |
1-2 Weeks |
€ 180,00 |
|
Smith-Magenis syndrome (SMS) mehr |
17p11.2;RAI1 |
Sequencing |
1-2 Weeks |
€ 1870,00 |
|
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) mehr |
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) |
Common Deletion |
€ 480,00 |
|
|
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) mehr |
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) |
Common Deletion |
€ 480,00 |
|
|
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) mehr |
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) |
Common Deletion |
€ 480,00 |
|
|
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) mehr |
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) |
Whole Gene Sequencing |
€ 1080,00 |
|
|
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) mehr |
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) |
Whole Gene Sequencing |
€ 1080,00 |
|
|
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) mehr |
SMN1 (SURVIVAL MOTOR NEURON PROTEIN) |
Whole Gene Sequencing |
€ 1080,00 |
|
|
Sotos syndrome mehr |
NSD1 |
Mutation scanning (DGGE); deletions (MLPA*) |
5 Weeks |
€ 935,00 |
|
Sotos syndrome mehr |
NSD1-gene |
MLPA-analysis |
1 Week |
€ 363,00 |
|
Spastic Paraplegia 3A (SPG3A) mehr |
SPG3A |
Sequencing |
3 Weeks |
€ 900,00 |
|
Spastic Paraplegia 3A (SPG3A) mehr |
SPG3A |
MLPA |
5 Weeks |
€ 120,00 |
|
Spastic Paraplegia 4 (SPG4) mehr |
SPG4 |
Sequencing |
90 days |
€ 900,00 |
|
Spastic Paraplegia 4 (SPG4) mehr |
SPG4 |
MLPA |
4 weeks |
€ 120,00 |
|
Spastic Paraplegia 7 (SPG7) mehr |
SPG7 |
Sequencing |
4 Weeks |
€ 1080,00 |
|
Spastic Paraplegia 7 (SPG7) mehr |
SPG7 |
MLPA |
4 Weeks |
€ 120,00 |
|
Spermatogenic failure, nonobstructive, Y-linked mehr |
AZF |
Deletions (PCR) |
1 Week |
€ 130,00 |
|
Spinal and bulbar muscular atrophy, Kennedy disease (SMAX1) mehr |
AR |
Repeat expansion detection |
2 Weeks |
€ 230,00 |
|
Spinal Muscular Atrophy mehr |
SMN1 |
Complete sequencing of SMN1 gene |
5 weeks |
€ 1268,30 |
|
Spinal muscular atrophy, type1 (SMA1) mehr |
SMN1 |
Copy number determination SMN1, SMN2 (MLPA*) |
1 Week |
€ 230,00 |
|
Spinal muscular atrophy, type2 (SMA2) mehr |
SMN1 |
Copy number determination SMN1, SMN2 (MLPA*) |
1 Week |
€ 230,00 |
|
Spinal muscular atrophy, type3 (SMA3) mehr |
SMN1 |
Copy number determination SMN1, SMN2 (MLPA*) |
1 Week |
€ 230,00 |
|
Spinal muscular atrophytype I / II / III, SMA mehr |
SMN1-gene |
MLPA analysis |
1 Week |
€ 363,00 |
|
Spinocerebellar Ataxia 1 (SCA1) mehr |
ATXN1 |
Fragment analysis |
2 Weeks |
€ 130,00 |
|
Spinocerebellar Ataxia 11 (SCA11) mehr |
TTBK2 |
Sequencing (selected exons) |
2 Weeks |
€ 130,00 |
|
Spinocerebellar Ataxia 12 (SCA12) mehr |
PPP2R2B |
Fragment analysis |
2 Weeks |
€ 130,00 |
|
Spinocerebellar Ataxia 13 (SCA13) mehr |
KCNC3 |
Sequencing (selected exons) |
2 Weeks |
€ 130,00 |
|
Spinocerebellar Ataxia 14 (SCA14) mehr |
PRKCG |
Sequencing (selected exons) |
2 Weeks |
€ 130,00 |
|
Spinocerebellar Ataxia 14 (SCA14) mehr |
PRKCG |
Sequencing |
2 Weeks |
€ 1650,00 |
|
Spinocerebellar Ataxia 17 (SCA17) mehr |
TBP |
Fragment analysis |
2 Weeks |
€ 130,00 |
|
Spinocerebellar Ataxia 2 (SCA2) mehr |
ATXN2 |
Fragment analysis |
2 Weeks |
€ 130,00 |
|
Spinocerebellar Ataxia 3 (Machado-Joseph, SCA3) mehr |
ATXN3 |
Fragment analysis |
2 Weeks |
€ 130,00 |
|
Spinocerebellar Ataxia 6 (SCA6) mehr |
CACNA1A |
Fragment analysis |
2 Weeks |
€ 130,00 |
|
Spinocerebellar Ataxia 8 (SCA8) mehr |
ATXN8OS |
Fragment analysis |
2 Weeks |
€ 130,00 |
|
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive (SCAN1) mehr |
TDP1 |
Sequencing (selected exons) |
2 Weeks |
€ 130,00 |
|
SPTBN2 (SPECTRIN, BETA, NONERYTHROCYTIC, 2) mehr |
SPTBN2 (SPECTRIN, BETA, NONERYTHROCYTIC, 2) |
Exons 7 (L253P), 12 (c.1592-1630del and 14 (c.1886-1900del) |
€ 420,00 |
|
|
SPTBN2 (SPECTRIN, BETA, NONERYTHROCYTIC, 2) mehr |
SPTBN2 (SPECTRIN, BETA, NONERYTHROCYTIC, 2) |
Whole Gene |
€ 3120,00 |
|
|
STANDARD BROTHER TEST (2 Brothers) mehr |
STANDARD BROTHER TEST (2 Brothers) |
Sequencing |
€ 420,00 |
|
|
STANDARD BROTHER TEST (2 Sisters) mehr |
STANDARD BROTHER TEST (2 Sisters) |
Sequencing |
€ 420,00 |
|
|
STANDARD MATERNITY TEST (Alleged Mother and Child) mehr |
STANDARD MATERNITY TEST (Alleged Mother and Child) |
Sequencing |
€ 420,00 |
|
|
STANDARD MATERNITY TEST (Alleged Mother and Child) mehr |
STANDARD MATERNITY TEST (Alleged Mother and Child) |
Sequencing |
€ 660,00 |
|
|
STANDARD PATERNITY TEST (Alleged Father and Child) mehr |
STANDARD PATERNITY TEST (Alleged Father and Child) |
Sequencing |
€ 420,00 |
|
|
STANDARD PATERNITY TEST (Alleged Father and Child) mehr |
STANDARD PATERNITY TEST (Alleged Father and Child) |
Sequencing |
€ 660,00 |
|
|
STANDARD TWIN TEST (2 Twins) mehr |
STANDARD TWIN TEST (2 Twins) |
Sequencing |
€ 420,00 |
|
|
STARGARDT DISEASE, TYPE 1 mehr |
PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) |
Sequencing |
€ 480,00 |
|
|
STARGARDT DISEASE, TYPE 3 mehr |
ELOVL4 (ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4) |
Sequencing |
€ 1020,00 |
|
|
STEATOCYSTOMA MULTIPLEX mehr |
KRT17 (KERATIN 17) |
Sequencing |
€ 1200,00 |
|
|
Steroid- resistant nephrotic syndrome mehr |
NPHS2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 440,00 |
|
Steroid- resistant nephrotic syndrome mehr |
NPHS2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
STICKLER SYNDROME TYPE 1 mehr |
COL2A1 |
Sequencing |
€ 1500,00 |
|
|
STICKLER SYNDROME, TYPE 2 mehr |
COL11A1 (COLLAGEN, TYPE 11, ALPHA-1) |
Sequencing |
€ 3600,00 |
|
|
STICKLER SYNDROME, TYPE 3 mehr |
COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) |
Sequencing |
€ 3960,00 |
|
|
STOMACH CANCER mehr |
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) |
Sequencing |
€ 540,00 |
|
|
STORAGE OF DNA mehr |
STORAGE OF DNA |
Price per year |
€ 12,00 |
|
|
STRIATONIGRAL DEGENERATION, INFANTILE mehr |
MTATP6 (ATP SYNTHASE 6, COMPLEX 5, ATP SYNTHASE, SUBUNIT ATPase 6, ATP6) |
Sequencing |
€ 576,00 |
|
|
STUVE-WIEDEMANN SYNDROME mehr |
LIFR (LEUKEMIA INHIBITORY FACTOR RECEPTOR) |
653-654insT |
€ 480,00 |
|
|
STUVE-WIEDEMANN SYNDROME mehr |
LIFR (LEUKEMIA INHIBITORY FACTOR RECEPTOR) |
Whole Gene |
€ 2880,00 |
|
|
SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY mehr |
OXCT1 (3-@OXOACID CoA TRANSFERASE 1; SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE; SCOT) |
Sequencing |
€ 1680,00 |
|
|
Sudden Death mehr |
Sequencing of 8 genes: TGFB3, RYR2, TMEM43, DSP, PKP2, DSG2, DSC2, JUP |
SOLID next generation sequencing followed by sanger sequencing confirmation of mutations |
90 days |
€ 3570,00 |
|
SUDDEN INFANT DEATH SYNDROME mehr |
MTND1 (COMPLEX 1, SUBUNIT ND1, NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND1NADH DEHYDROGENASE, SUBUNIT 1) |
Sequencing |
€ 1320,00 |
|
|
SUDDEN INFANT DEATH SYNDROME mehr |
MTTG (TRANSFER RNA, MITOCHONDRIAL, GLYCINE) |
Sequencing |
€ 1020,00 |
|
|
SUDDEN INFANT DEATH SYNDROME mehr |
MTTL1 (TRANSFER RNA, MITOCHONDRIAL, LEUCINE, 1) |
Sequencing |
€ 1020,00 |
|
|
SUDDEN INFANT DEATH SYNDROME, SIDS mehr |
SCN5A |
See also LONG QT PANEL 1, 2 and 3 |
€ 3360,00 |
|
|
SUPRANUCLEAR PALSY, PROGRESSIVE, 1 mehr |
MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU) |
Whole Gene |
€ 1800,00 |
|
|
SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE mehr |
ELN (ELASTIN) |
MLPA |
€ 480,00 |
|
|
SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE mehr |
ELN (ELASTIN) |
Sequencing |
€ 1560,00 |
|
|
SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE mehr |
ELN (ELASTIN) |
Sequencing and MLPA |
€ 1920,00 |
|
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, TYPE 1, SMDP1 mehr |
SFTPB (SURFACTANT PULMONARY-ASSOCIATED PROTEIN B) |
Sequencing |
€ 1140,00 |
|
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, TYPE 2, SMDP2 mehr |
SFTPC (SURFACTANT PULMONARY-ASSOCIATED PROTEIN C) |
Sequencing |
€ 780,00 |
|
|
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, TYPE 3 mehr |
ABCA3 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ATP-BINDING CASSETTE TRANSPORTER 3) |
Sequencing |
€ 2400,00 |
|
|
SUSCEPTIBILITY TO INFECTION mehr |
MBL2 (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, MANNAN-BINDING PROTEIN, COLLECTIN 1) |
5 Mutations: ARG52CYS, GLY54ASP, GLY57GLU, -550G>C and -221G>C |
€ 300,00 |
|
|
SUSCEPTIBILITY TO INFECTION mehr |
MBL2 (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, MANNAN-BINDING PROTEIN, COLLECTIN 1) |
Whole Gene |
€ 600,00 |
|
|
SYNDACTYLY, TYPE 2 mehr |
HOXD 13 (HOMEOBOX D13) |
Sequencing |
€ 612,00 |
|
|
SYNDACTYLY, TYPE 3 mehr |
GJA1 (GAP JUNCTION PROTEIN, ALPHA-1, CONNEXIN 43, CX43) |
Sequencing |
€ 396,00 |
|
|
SYNOVIAL SARCOMA mehr |
SYT/SSX |
t(X;18) |
€ 480,00 |
|
|
SYSTEMIC LUPUS ERYTHEMATOSUS mehr |
DNASE1 (DEOXYRIBONUCLEASE 1; DNase 1, LYSOSOMAL) |
Sequencing |
€ 1920,00 |
|
|
SYSTEMIC MASTOCYTOSIS mehr |
V617F Mutation in JAK2 |
Diagnostic |
€ 360,00 |
|
|
|
|
|
|
|
T-ALL mehr |
HOX11L2 overexpression |
Diagnostic |
€ 360,00 |
|
|
TARSAL-CARPAL COALITION SYNDROME mehr |
NOG (NOGGIN) |
Sequencing |
€ 480,00 |
|
|
Tay-Sachs disease mehr |
HEXA (HEXOSAMINIDASE) |
Det mut frecuen c.1277insTATC, c.1421+1G>C y c.805>A gen HEXA |
€ 143,00 |
|
|
TAY-SACHS DISEASE, AB VARIANT mehr |
GM2A (GM2-ACTIVATOR) |
Sequencing |
€ 840,00 |
|
|
TAY-SACHS DISEASE mehr |
HEXA (HEXOSAMINIDASE) |
See also Molecular Screening Tests Table |
€ 180,00 |
|
|
TAY-SACHS DISEASE mehr |
HEXA (HEXOSAMINIDASE) |
See also Molecular Screening Tests Table |
€ 1740,00 |
|
|
TBP (TATA BOX-BINDING PROTEIN, SCA17) mehr |
TBP (TATA BOX-BINDING PROTEIN, SCA17) |
Repeat |
€ 180,00 |
|
|
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER mehr |
ENG and ALK1 |
MLPA for 2 Genes |
€ 840,00 |
|
|
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER mehr |
ENG and ALK1 |
Whole Gene Sequencing and MLPA for 2 Genes |
€ 2400,00 |
|
|
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 1 mehr |
ENG (ENDOGLIN) |
Whole Gene Sequencing |
€ 1080,00 |
|
|
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 2 mehr |
ALK1 (ACTIVIN A RECEPTOR, TYPE II-LIKE 1, ACVRL1) |
Whole Gene Sequencing |
€ 960,00 |
|
|
TERATOMA GERM CELL TUMOR mehr |
Iso(12p) |
€ 480,00 |
|
||
TETRA-AMELIA (AUTOSOMAL RECESSIVE) mehr |
WNT3 (WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 3) |
Sequencing |
€ 840,00 |
|
|
TETRALOGY OF FALLOT mehr |
NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX) |
Sequencing |
€ 540,00 |
|
|
TETRALOGY OF FALLOT mehr |
JAG1 (JAGGED1) |
Sequencing |
€ 2520,00 |
|
|
TGIF mehr |
TGIF |
See SHH, SIX3, TGIF and ZIC2 ( |
€ 0,00 |
|
|
Thanatophoric Dysplasia mehr |
FGFR3 |
Detection of the K650Q mutation in the FGFR3 gene |
4 Weeks |
€ 247,00 |
|
Thanatophoric Dysplasia mehr |
FGFR3 |
Screening of R248C, S249C, G370C, S371C, Y373C, K650M. c.2419T>G. c.2420G>T and c.2421A>N in FGFR3 gene |
6 weeks |
€ 362,00 |
|
Thanatophoric dysplasia (TD1) mehr |
FGFR3 |
Sequencing |
3 Weeks |
€ 600,00 |
|
THANATOPHORIC DYSPLASIA, TYPE 2 mehr |
FGFR3 |
Sequencing |
€ 360,00 |
|
|
THE MYELODYSPLASTIC SYNDROMES mehr |
V617F Mutation in JAK2 |
Diagnostic |
€ 360,00 |
|
|
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, TRMA mehr |
SLC19A2 (SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; THIAMINE TRANSPORTER PROTEIN 1) |
Sequencing |
€ 600,00 |
|
|
Thiopurin-S-Methyltransferase, TPMT mehr |
TPMT-gene |
1 Week |
€ 110,00 |
|
|
Thrombasthenia of Glanzmann and Naegeli mehr |
ITGB3 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 825,00 |
|
THROMBOCYTHEMIA, ESSENTIAL mehr |
JAK2 (JANUS KINASE 2) |
Exon 12, including V617F Mutation |
€ 300,00 |
|
|
THROMBOCYTHEMIA, ESSENTIAL mehr |
MPL (MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE, TPOR) |
Exon 10, including W515L Mutation |
€ 300,00 |
|
|
THROMBOCYTOPENIA 1 mehr |
WAS |
Sequencing |
4 Weeks |
€ 594,00 |
|
THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE mehr |
ITGB3 (INTEGRIN, BETA-3) |
Sequencing |
€ 1200,00 |
|
|
THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS mehr |
GATA1 (GATA-BINDING PROTEIN 1; ERYTHROID TRANSCRIPTION FACTOR 1, GLOBIN TRANSCRIPTION FACTOR 1) |
Sequencing |
€ 1440,00 |
|
|
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME mehr |
TAR DELETION |
Sequencing |
€ 720,00 |
|
|
Thromboembolic diseases mehr |
HABP2 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 715,00 |
|
Thromboembolic diseases mehr |
HABP2 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Thromboembolic diseases mehr |
MTHFR |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 605,00 |
|
Thromboembolic diseases mehr |
PROC |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 385,00 |
|
Thromboembolic diseases mehr |
PROC |
Multiplex Ligation-Dependent Probe Amplification; each of the 9 exons, excluding exon 4. |
2-4 Weeks |
€ 385,00 |
|
Thromboembolic diseases mehr |
PROC |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Thromboembolic diseases mehr |
PROS1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 720,00 |
|
Thromboembolic diseases mehr |
PROS1 |
Multiplex Ligation-Dependent Probe Amplification;each exon of the PROS1 except exon 3,8,14 |
2-4 Weeks |
€ 385,00 |
|
Thromboembolic diseases mehr |
PROS1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Thromboembolic diseases mehr |
SERPINC1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 380,00 |
|
Thromboembolic diseases mehr |
SERPINC1 |
Multiplex Ligation-Dependent Probe Amplification; each exon of theSERPINC1 gene |
2-4 Weeks |
€ 385,00 |
|
Thromboembolic diseases mehr |
SERPINC1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Thromboembolic diseases mehr |
THBD |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
Thromboembolic diseases mehr |
THBD |
Carrier testing |
2 Weeks |
€ 280,00 |
|
Thromboembolic diseases mehr |
VKORC1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 230,00 |
|
Thromboembolic diseases mehr |
VKORC1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Thrombophilia mehr |
FGB-gene |
455G/A polymorphism |
1-2 Days |
€ 90,00 |
|
Thrombophilia mehr |
F |
V34L mutation in the FXIII-gene |
1-2 Days |
€ 90,00 |
|
Thrombophilia mehr |
GlycoproteinIa-gene(ITGA2-gene) |
807 C>T polymorphism |
1-2 Days |
€ 80,00 |
|
Thrombophilia mehr |
GlycoproteinIIIa-gene(ITGB3-gene) |
HPA-1a/1b (1565 C>T; L33P) polymorphism |
1-2 Days |
€ 80,00 |
|
Thrombophilia mehr |
F5 |
F-V-Leiden |
1 Day - 2 Weeks |
€ 30,00 |
|
Thrombophilia mehr |
FII |
FII G20210A |
1 Day - 2 Weeks |
€ 30,00 |
|
Thrombophilia mehr |
F5 & FII |
F-V-Leiden & FII G20210A |
1 Day - 2 Weeks |
€ 50,00 |
|
Thrombophilia Panel mehr |
FII, FV, MTHFR |
Simultaneous analysis of FII, FV and MTHFR |
3 Weeks |
€ 313,00 |
|
Thrombophilia Panel mehr |
FII, FV, MTHFR, PAI1 |
Simultaneous analysis of FII, FV, MTHFR and PAI1 |
3 Weeks |
€ 328,00 |
|
Thrombotic Thrombocytopenic Purpura mehr |
ADAMTS13 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Thrombotic Thrombocytopenic Purpura mehr |
ADAMTS13 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Thrombozytopenia 1 (THC1) mehr |
WAS |
Sequencing |
3 Weeks |
€ 1320,00 |
|
THYROID ADENOMA, HYPERFUNCTIONING mehr |
TSHR (THYROID-STIMULATING HORMONE RECEPTOR) |
Sequencing |
€ 600,00 |
|
|
THYROID CARCINOMA mehr |
TSHR (THYROID-STIMULATING HORMONE RECEPTOR) |
Sequencing |
€ 600,00 |
|
|
THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC mehr |
NTRK1 |
Sequencing |
4 Weeks |
€ 1320,00 |
|
THYROID CARCINOMA, PAPILLARY, SOMATIC mehr |
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) |
Sequencing |
€ 1200,00 |
|
|
THYROID HORMONE RESISTANCE, GENERALIZED (AUTOSOMAL DOMINANT) mehr |
THRB (THYROID HORMONE RECEPTOR, BETA, ERBA2) |
Sequencing |
€ 1200,00 |
|
|
THYROID HORMONE RESISTANCE, GENERALIZED (AUTOSOMAL RECESSIVE) mehr |
THRB (THYROID HORMONE RECEPTOR, BETA, ERBA2) |
Sequencing |
€ 1200,00 |
|
|
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY mehr |
THRB (THYROID HORMONE RECEPTOR, BETA, ERBA2) |
Sequencing |
€ 1200,00 |
|
|
THYROID HORMONOGENESIS mehr |
SLC5A5 (SODIUM-IODIDE SYMPORTER, NIS) |
Sequencing |
€ 1464,00 |
|
|
THYROTOXIC PERIODIC PARALYSIS mehr |
CACNA1S (CACNL1A3) |
Exons 11 and 30, including the R528H, R1239H and R1239G Mutations |
€ 420,00 |
|
|
THYROTROPIN, UNRESPONSIVENESS TO mehr |
TSHR (THYROID-STIMULATING HORMONE RECEPTOR) |
Sequencing |
€ 600,00 |
|
|
TIBIAL MUSCULAR DYSTROPHY, TARDIVE mehr |
TTN (TITIN, CONNECTIN) |
Exons 212-213 |
€ 456,00 |
|
|
TIGHT SKIN CONTRACTURE SYNDROME, LETHAL mehr |
ZMPSTE24 (ZINC METALLOPROTEINASE STE24) |
Sequencing |
€ 1560,00 |
|
|
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form mehr |
TK2 |
Sequencing |
€ 694,00 |
|
|
TOBACCO ADDICTION, SUSCEPTIBILITY TO mehr |
CHRNA4 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4, ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT) |
Sequencing |
€ 1080,00 |
|
|
TOBACCO ADDICTION, SUSCEPTIBILITY TO mehr |
SLC6A3 (SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE), MEMBER 3; DOPAMINE TRANSPORTER; DAT1) |
Sequencing |
€ 1332,00 |
|
|
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS mehr |
FAM58A (FAMILY WITH SEQUENCE SIMILARITY 58, MEMBER A) |
Deletion-Duplication |
€ 720,00 |
|
|
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS mehr |
FAM58A (FAMILY WITH SEQUENCE SIMILARITY 58, MEMBER A) |
Whole Gene |
€ 1500,00 |
|
|
TOOTH AGENESIS, SELECTIVE, TYPE 1 mehr |
MSX1 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1) |
Sequencing |
€ 960,00 |
|
|
Torsion dystonia mehr |
DYT1 |
Detection of the deletion in the DYT1 gene |
3 weeks |
€ 184,00 |
|
TOWNES-BROCKS SYNDROME mehr |
SALL1 (SAL-LIKE 1) |
Deletions |
€ 420,00 |
|
|
TOWNES-BROCKS SYNDROME mehr |
SALL1 (SAL-LIKE 1) |
Whole Gene |
€ 1440,00 |
|
|
TP73L (TUMOR PROTEIN p73-LIKE) mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Deletion-Duplication |
€ 720,00 |
|
|
TP73L (TUMOR PROTEIN p73-LIKE) mehr |
TP73L (TUMOR PROTEIN p73-LIKE) |
Whole Gene |
€ 1800,00 |
|
|
TPMT gene Genotyping mehr |
TPMT |
Determination of genotypes associated with 6-mercaptopurine metabolism |
3 weeks |
€ 320,00 |
|
TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN mehr |
COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) |
Sequencing |
€ 4200,00 |
|
|
Transient neonatal diabetes mellitus 2 mehr |
ABCC8 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1210,00 |
|
Transient neonatal diabetes mellitus 2 mehr |
ABCC8 |
Multiplex Ligation-Dependent Probe Amplification; each exon of the ABCC8 gene |
2-4 Weeks |
€ 385,00 |
|
Transient neonatal diabetes mellitus 2 mehr |
ABCC8 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
Transient neonatal diabetes mellitus 3 mehr |
KCNJ11 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 280,00 |
|
Transient neonatal diabetes mellitus 3 mehr |
KCNJ11 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
TRANSPOSITION OF GREAT ARTERIES (X-LINKED) mehr |
ZIC3 |
Sequencing |
€ 660,00 |
|
|
Treacher Collins-Franceschatti syndrome (TCOF) mehr |
TCOF1 |
Sequencing (selected exons) |
4 Weeks |
€ 440,00 |
|
Treacher Collins-Franceschatti syndrome (TCOF) mehr |
TCOF1 |
Sequencing |
4 Weeks |
€ 1176,00 |
|
TRICHORHINOPHALANGEAL SYNDROME, TYPE 1, TRPS1 mehr |
TRPS1 (ZINC FINGER TRANSCRIPTION FACTOR TRPS1) |
Sequencing |
€ 1284,00 |
|
|
TRIFUNCTIONAL PROTEIN DEFICIENCY mehr |
HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT, LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE, LCHAD) |
2 Common Mutations: (1528G>C and 1132C>T) |
€ 360,00 |
|
|
TRIFUNCTIONAL PROTEIN DEFICIENCY mehr |
HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT, LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE, LCHAD) |
Whole Gene |
€ 1440,00 |
|
|
TRIFUNCTIONAL PROTEIN DEFICIENCY mehr |
HADHB (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, BETA SUBUNIT, TRIFUNCTIONAL PROTEIN, BETA SUBUNIT MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, BETA SUBUNIT HYDROXYACYL-CoA DEHYDROGENASE, HADH) |
Whole Gene |
€ 1440,00 |
|
|
TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME mehr |
MYH8 (MYOSIN, HEAVY CHAIN 8, SKELETAL MUSCLE, PERINATAL) |
Sequencing |
€ 2160,00 |
|
|
TRPV4 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; VANILLOID RECEPTOR-RELATE mehr |
TRPV4 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; VANILLOID RECEPTOR-RELATED OSMOTICALLY ACTIVATED CHANNEL; OSM9-LIKE TRANSIENT RECEPTOR POTENTIAL CHANNEL 4; TRANSIENT RECEPTOR POTENTIAL CHANNEL 12) |
Sequencing |
€ 1920,00 |
|
|
TSC2 - PKD1 DELETION mehr |
16p13.3 - p13.12 deletion |
Sequencing |
€ 480,00 |
|
|
TUBEROUS SCLEROSIS mehr |
TSC1,TSC2 |
Mutation scanning (DGGE) |
4 Weeks |
€ 1100,00 |
|
TUBEROUS SCLEROSIS mehr |
TSC1,TSC2 |
Sequencing |
4 Weeks |
€ 2200,00 |
|
TUBEROUS SCLEROSIS mehr |
TSC1 and TSC2 |
2 Whole Genes and TSC2 Deletion Testing |
€ 3240,00 |
|
|
TUBEROUS SCLEROSIS mehr |
TSC1 (HAMARTIN) |
Whole Gene Sequencing |
€ 1080,00 |
|
|
TUBEROUS SCLEROSIS mehr |
TSC2 (TUBERIN) |
Whole Gene Sequencing |
€ 1296,00 |
|
|
TYROSINEMIA, TYPE 1 mehr |
FAH (FUMARYLACETOACETATE HYDROLASE, FUMARYLACETOACETASE) |
5 Exons (Most Common Mutations) |
€ 360,00 |
|
|
TYROSINEMIA, TYPE 1 mehr |
FAH (FUMARYLACETOACETATE HYDROLASE, FUMARYLACETOACETASE) |
Whole Gene Sequencing |
€ 1800,00 |
|
|
|
|
|
|
|
ULLRICH CONGENITAL MUSCULAR DYSTROPHY mehr |
COL6A1, COL6A2, COL6A3 |
3 Genes |
€ 3240,00 |
|
|
ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY mehr |
WNT7A (WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A) |
Sequencing |
€ 720,00 |
|
|
ULNAR - MAMMARY SYNDROME mehr |
TBX3 (T-BOX 3) |
Sequencing |
€ 1500,00 |
|
|
Ultrafast metaboliser mehr |
CYP2D6 |
*XN (request price) |
€ 0,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 1 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 10 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 11 |
Sequencing |
€ 428,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 12 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 13 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 14 |
Sequencing |
3 Weeks |
€ 528,00 |
|
Uniparental disomy Tests mehr |
Chromosome 15 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 16 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 17 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 18 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 19 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 2 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 20 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 21 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 3 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 4 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 5 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 6 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 7 |
Sequencing |
3 Weeks |
€ 477,00 |
|
Uniparental disomy Tests mehr |
Chromosome 8 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests mehr |
Chromosome 9 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests Chromosome 22 mehr |
Chromosome 22 |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy Tests Chromosome X mehr |
Chromosome X |
Analysis of 3 Samples (Proband, Father and Mother) |
€ 540,00 |
|
|
Uniparental disomy, chromosome 14 mehr |
- |
Disomy, chromosome 14 |
5 weeks |
€ 477,40 |
|
USHER SYNDROME and NON-SYNDROMIC DEAFNESS mehr |
USHER TYPE 1: MYO7A encoding Myosin 7A for Usher syndrome type 1A/B (USH1A/B), USH1C encoding Harmonin for Usher syndrome type 1C (USH1C), CDH23 encoding Cadherin23 for Usher syndrome type 1D (USH1D), PCDH15 encoding Protocadherin15 for Usher syndrome typ |
19 genes |
€ 3360,00 |
|
|
USHER SYNDROME, DEAFNESS mehr |
CDH23, MYO7A, PCDH15, HARMONIN, SANS, USHERIN, MASS1, USH3A |
USHER CHIP 429 mutations |
€ 720,00 |
|
|
USHER SYNDROME, TYPE 1B, USH1B mehr |
MYO7A (MYOSIN 7A) |
Sequencing |
€ 1920,00 |
|
|
USHER SYNDROME, TYPE 1C, USH1C mehr |
USH1C (HARMONIN) |
See also Next Generation Sequencing Platforms (request price) |
€ 0,00 |
|
|
USHER SYNDROME, TYPE 2A, USH2A mehr |
USH2A |
Exon 13 |
€ 444,00 |
|
|
|
|
|
|
|
VAN DER WOUDE SYNDROME� mehr |
IRF6 |
Sequencing |
3 weeks |
€ 810,00 |
|
VARIOUS mehr |
ALLELE 2A (IVS14+1G-A) IN DPD (DIHYDROPYRIMIDINE DEHYDROGENASE) |
5-FLUORO URACIL TOXICITY |
€ 240,00 |
|
|
VARIOUS mehr |
ALLELES *3,*4, *5A, *7, *8, *9, *10, *12, *13, M166V, R886H, D949V IN DPD (DIHYDROPYRIMIDINE DEHYDROGENASE) |
5-FLUORO URACIL TOXICITY |
€ 960,00 |
|
|
VARIOUS mehr |
ALLELES 1, 2, 3A, 3C IN TMPT (THIOPURINE S-METHYLTRANSFERASE) |
THIOPURINE TOXICITY |
€ 156,00 |
|
|
VARIOUS mehr |
HLA-B*5701 |
ABACAVIR TOXICITY |
€ 264,00 |
|
|
VARIOUS mehr |
R16G AND Q27E MUTATIONS IN ADRB2 |
BETA2-AGONISTS RESPONSE |
€ 372,00 |
|
|
VARIOUS mehr |
TA INSERTION IN PROMOTOR OF UGT1A1 (UDP-GLYCURONOSYL TRANSFERASE) |
IRINOTECAN TOXICITY |
€ 234,00 |
|
|
VARIOUS HEART MALFORMATIONS mehr |
NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX) |
Sequencing |
€ 540,00 |
|
|
VARIOUS TUMORS mehr |
KRAS |
MUTATIONS IN EXONS 1 AND 2 |
€ 234,00 |
|
|
Vas deferens, congenital bilateral aplasia of (CBAVD) mehr |
CFTR |
OLA to detect a panel of mutations |
1 Week |
€ 385,00 |
|
VATER-HYDROCEPHALUS SYNDROME mehr |
PTEN |
Whole Gene and Deletions-Duplications |
€ 2040,00 |
|
|
VELOCARDIOFACIAL SYNDROME, VCFS mehr |
TBX1 (T-BOX 1) |
Sequencing |
€ 1500,00 |
|
|
VELOCARDIOFACIAL, VCF mehr |
22q11.2 / 22q13 deletion |
Sequencing |
€ 480,00 |
|
|
VENOUS THROMBOEMBOLISM mehr |
FGA (FIBRINOGEN ALPHA) |
Sequencing |
€ 660,00 |
|
|
VENOUS THROMBOEMBOLISM mehr |
FGB (FIBRINOGEN BETA) |
Sequencing |
€ 840,00 |
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC mehr |
CASQ2 (CALSEQUESTRIN 2) |
Sequencing |
€ 900,00 |
|
|
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC mehr |
RYR2 (RYANODINE RECEPTOR 2) |
Sequencing |
€ 960,00 |
|
|
VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF mehr |
TTPA (TOCOPHEROL TRANSFER PROTEIN, ALPHA, TTP1) |
Sequencing |
€ 720,00 |
|
|
VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET mehr |
VMD2 (VITELLIFORM MACULAR DYSTROPHY GENE 2, BESTROPHIN) |
Sequencing |
€ 1140,00 |
|
|
VOHWINKEL SYNDROME mehr |
GJB2 (CONNEXIN 26, CX26) |
Sequencing |
€ 240,00 |
|
|
VOHWINKEL SYNDROME, VARIANT FORM mehr |
LOR (LORICRIN) |
Sequencing |
€ 396,00 |
|
|
Von Hippel-Lindau syndrome (VHL) mehr |
VHL |
Sequencing; deletions (MLPA) |
3 Weeks |
€ 440,00 |
|
VON WILLEBRAND DISEASE, TYPE NORMANDY mehr |
VWF (VON WILLEBRAND FACTOR) |
Exons 28 |
€ 432,00 |
|
|
VON WILLEBRAND DISEASE, TYPE NORMANDY mehr |
VWF (VON WILLEBRAND FACTOR) |
Whole Gene |
€ 2340,00 |
|
|
|
|
|
|
|
WAARDENBURG SYNDROME, TYPE 1, WS1 mehr |
PAX3 (PAIRED BOX GENE 3) |
Deletion Analysis (MLPA) |
€ 660,00 |
|
|
WAARDENBURG SYNDROME, TYPE 1, WS1 mehr |
PAX3 (PAIRED BOX GENE 3) |
Whole Gene |
€ 1020,00 |
|
|
WAARDENBURG SYNDROME, TYPE 2, WS2 mehr |
MITF |
Deletion Analysis (MLPA) |
€ 600,00 |
|
|
WAARDENBURG SYNDROME, TYPE 2, WS2 mehr |
MITF |
Whole Gene |
€ 1320,00 |
|
|
WAARDENBURG SYNDROME, TYPE 2E mehr |
SOX10 (SRY-BOX 10) |
Sequencing |
€ 420,00 |
|
|
WAARDENBURG SYNDROME, TYPE 3, WS3 mehr |
PAX3 (PAIRED BOX GENE 3) |
Sequencing |
€ 660,00 |
|
|
WAARDENBURG-SHAH SYNDROME mehr |
EDNRB (ENDOTHELIN RECEPTOR, TYPE B) |
Sequencing |
€ 600,00 |
|
|
WAARDENBURG-SHAH SYNDROME mehr |
SOX10 (SRY-BOX 10) |
Sequencing |
€ 420,00 |
|
|
WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT mehr |
SOX10 (SRY-BOX 10) |
Sequencing |
€ 420,00 |
|
|
WAGR mehr |
11p13 deletion |
Sequencing |
€ 480,00 |
|
|
WAGR syndrome mehr |
WT1 |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 440,00 |
|
WAGR syndrome mehr |
WT1 |
Multiplex Ligation-Dependent Probe Amplification ; each exon of the WT1 gene |
2-4 Weeks |
€ 385,00 |
|
WAGR syndrome mehr |
WT1 |
Carrier testing |
2 Weeks |
€ 180,00 |
|
WALDNER BLOOD GROUP ANTIGEN WD(A) mehr |
SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) |
Sequencing |
€ 1200,00 |
|
|
WALKER-WARBURG SYNDROME mehr |
FKTN (FUKUTIN; FCMD) |
Sequencing |
€ 1080,00 |
|
|
WALKER-WARBURG SYNDROME mehr |
POMT1 (PROTEIN O-MANNOSYLTRANSFERASE 1) |
Sequencing |
€ 1320,00 |
|
|
WALKER-WARBURG SYNDROME mehr |
POMT2 (PROTEIN O-MANNOSYLTRANSFERASE 2) |
Sequencing |
€ 1320,00 |
|
|
WARFARINE SENSITIVITY mehr |
CYP2C9 (*1, *2, *3) and VKORC1 |
CYP2C9 (*1, *2, *3) and VKORC1 (haplotypes A and B) |
€ 480,00 |
|
|
WEILL-MARCHESANI SYNDROME (AUTOSOMAL RECESSIVE) mehr |
ADAMTS10 (A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 10) |
Sequencing |
€ 2040,00 |
|
|
WEILL-MARCHESANI SYNDROME (AUTOSOMAL RECESSIVE) mehr |
ADAMTS18 (A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 10) |
Sequencing |
€ 2160,00 |
|
|
WEISSENBACHER-ZWEYMULLER SYNDROME mehr |
COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) |
Sequencing |
€ 3960,00 |
|
|
WERNER SYNDROME mehr |
LMNA (LAMIN A/C) |
Sequencing |
€ 840,00 |
|
|
WERNER SYNDROME mehr |
RECQL2 (RECQ PROTEIN-LIKE 2) |
Sequencing |
€ 240,00 |
|
|
West syndrome mehr |
ARX |
Sequencing |
4 Weeks |
€ 495,00 |
|
WHITE SPONGE NEVUS mehr |
KRT13 (KERATIN 13) |
Sequencing |
€ 1200,00 |
|
|
WHITE SPONGE NEVUS mehr |
KRT4 (KERATIN 4) |
Sequencing |
€ 1200,00 |
|
|
Williams-Beuren syndrome (WBS) mehr |
7q11.2 |
MLPA* or FISH |
1 Week |
€ 230,00 |
|
WILMS TUMOR mehr |
11p13 |
Sequencing |
€ 480,00 |
|
|
WILMS TUMOR 1 mehr |
WT1 (WILMS TUMOR 1 GENE) |
Deletion-Duplication |
€ 480,00 |
|
|
WILMS TUMOR 1 mehr |
WT1 (WILMS TUMOR 1 GENE) |
Whole Gene |
€ 840,00 |
|
|
Wilson disease mehr |
ATP7B |
Sequencing (selected exons) |
4 Weeks |
€ 385,00 |
|
Wilson disease mehr |
ATP7B |
Sequencing |
4 Weeks |
€ 1248,00 |
|
Wilson disease mehr |
ATP7B-gene |
H1069Q mutation in the ATP7B-gene |
1 Week |
€ 90,00 |
|
Wilson disease mehr |
ATP7B |
Mutation screening in exon 5, 6, 8, 14 and 17 of the ATP7B gene |
€ 525,00 |
|
|
Wilson disease mehr |
ATP7B |
Mutation screening in exon 2, 11, 13, 18 and 20 of the ATP7B gene |
€ 671,00 |
|
|
Wiskott-Aldrich syndrome (WAS) mehr |
WAS |
Sequencing |
3 Weeks |
€ 594,00 |
|
WITKOP SYNDROME mehr |
MSX1 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1) |
Sequencing |
€ 960,00 |
|
|
WOLF-HIRSCHHORN, WHS mehr |
4p16.1 / 4p11 - q11 deletion |
Sequencing |
€ 480,00 |
|
|
WOLFRAM SYNDROME mehr |
WFS1 (WOLFRAMIN ) |
Sequencing |
€ 480,00 |
|
|
WOLMAN DISEASE mehr |
LIPA (LIPASE A, LYSOSOMAL ACID;CHOLESTEROL ESTER HYDROLASE) |
Sequencing |
€ 2280,00 |
|
|
WRIGHT BLOOD GROUP ANTIGEN mehr |
SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) |
Sequencing |
€ 1200,00 |
|
|
|
|
|
|
|
X- linked dominant hypophosphatemicrickets mehr |
PHEX |
DNA Sequencing;Whole Gene |
2-4 Weeks |
€ 1100,00 |
|
X- linked dominant hypophosphatemicrickets mehr |
PHEX |
Multiplex Ligation-Dependent Probe Amplification; each exon of the PHEX gene |
2-4 Weeks |
€ 385,00 |
|
X- linked dominant hypophosphatemicrickets mehr |
PHEX |
Carrier testing |
2 Weeks |
€ 180,00 |
|
X-INACTIVATION STUDIES mehr |
X-INACTIVATION STUDIES |
Sequencing |
€ 420,00 |
|
|
X-linked periventricular heterotopia mehr |
FLN1 |
Sequencing of exons 3, 4, 5, 11, 22, 28 and 29 in the FLN1 gene |
3 weeks |
€ 626,00 |
|
X-linked Retinoschisis mehr |
RS1 |
Mutation screening in exons 4 and 5 of the RS1 gene |
3 Weeks |
€ 460,00 |
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A mehr |
XPA |
Sequencing |
€ 1920,00 |
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C mehr |
XPC |
Sequencing |
€ 2400,00 |
|
|
XLAG syndrome mehr |
ARX |
Sequencing |
4 Weeks |
€ 495,00 |
|
XX MALE mehr |
Yp11.3 / Xp11.1 - q11.1 translocation |
Sequencing |
€ 480,00 |
|
|
|
|
|
|
|
ZELLWEGER SYNDROME mehr |
PEX1 (PEROXISOME BIOGENESIS FACTOR 1) |
Exons 13 and 15 |
€ 720,00 |
|
|
ZELLWEGER SYNDROME mehr |
PEX2, PEX10, PEX12 and PEX26 |
PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3) |
€ 1560,00 |
|
|
ZIC2 (ZINC FINGER PROTEIN OF CEREBELLUM, 2) mehr |
ZIC2 (ZINC FINGER PROTEIN OF CEREBELLUM, 2) |
See also SHH, SIX3, TGIF and ZIC2 |
€ 960,00 |
|
|
ZZZZZ 206 HAEMOPHILIA A mehr |
F8 (FACTOR 8) |
Intron 1 Inversion |
€ 360,00 |
|
|
ZZZZZ 522 POLYPOSIS COLI, ADENOMATOUS mehr |
APC |
Whole Gene |
€ 720,00 |
|
|
ZZZZZ 550 ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1 mehr |
APP |
Whole Gene |
€ 840,00 |
|
|
ZZZZZ 630 MULTIPLE EXOSTOSES, TYPE 1, EXT1, HME mehr |
EXT1 (EXOSTOSIN 1) |
Sequencing |
€ 960,00 |
|
|
ZZZZZ 725 MYOTONIA CONGENITA (AUTOSOMAL RECESSIVE) mehr |
CLCN1 |
Sequencing |
€ 1080,00 |
|
|
ZZZZZ remove Multiple Epiphyseal Dysplasia, type 1 mehr |
MATN3, COL9A1, COL9A2 and COL9A3 |
Mutation screening on exon 2 of the MATN3 gene, exons 8 and 9 of the COL9A1 gene, and exons 2, 3, 4 of the COL9A2 and COL9A3 genes |
€ 792,00 |
|
|
ZZZZZZ 330 POLYPOSIS COLI, ADENOMATOUS mehr |
APC |
MLPA for Deletions-Duplications |
€ 600,00 |
|
|
ZZZZZZ 50 HYPERTENSION mehr |
ACE (ANGIOTENSIN 1-CONVERTING ENZYME) |
Ins/del |
€ 120,00 |
|
|
ZZZZZZ 700 FIBROMUSCULAR DYSPLASIA mehr |
COL3A1 |
Whole Gene Analysis |
€ 1080,00 |
|
|
ZZZZZZ 725 MYOTONIA CONGENITA (AUTOSOMAL DOMINANT) mehr |
CLCN1 |
Sequencing |
€ 1080,00 |
|
|
ZZZZZZZ taken MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL mehr |
CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT) |
Sequencing |
€ 780,00 |
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