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Analytes
Gene panels
Disease
Laboratory
Small cell carcinoma of the ovary
SMARCA4
Small cell carcinoma of the ovary
Centrum Medische Genetica - UZ Gent
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
DPYD
5-fluorouracil toxicity
Centrum Medische Genetica - UZ Antwerpen
Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene)
DNAJC30
Leber hereditary optic neuropathy
Centrum Medische Genetica - UZ Brussel VUB
Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel)
Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics
HLA-B
Abacavir toxicity
Centre de Génétique Humaine - CHU Sart-Tilman
Li-Fraumeni syndrome
TP53
Li-Fraumeni syndrome
Centrum Menselijke Erfelijkheid - KUL
Epilepsy without developmental delay, familial (gene panel)
(Familial) epilepsy without developmental delay (gene panel)
Centrum Medische Genetica - UZ Antwerpen
Tuberous sclerosis
TSC1
,
TSC2
Tuberous sclerosis complex
Centrum Medische Genetica - UZ Gent
Malignant Mesothelioma (BAP1; CDKN2A genes)
BAP1
,
CDKN2A
Centrum Menselijke Erfelijkheid - KUL
Medulloblastoma (gene panel)
SUFU
,
TP53
,
PTCH1
Medulloblastoma (3 genes) - KUL
Medulloblastoma
Centrum Menselijke Erfelijkheid - KUL
Melanoma / Familial Atypical Multiple Mole Melanoma Syndrome (gene panel)
Melanoma and Familial Atypical Multiple Mole Melanoma Syndrome (8 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Microsatellite instability analysis
Lynch syndrome
Centrum Menselijke Erfelijkheid - KUL
Multiple endocrine neoplasia type 1 and 4 (MEN1; CDKN1B genes)
MEN1
,
CDKN1B
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
Centrum Menselijke Erfelijkheid - KUL
Multiple endocrine neoplasia type 2A and 2B / Familial medullary thyroid carcinoma
RET
Multiple endocrine neoplasia type 2B
,
Multiple endocrine neoplasia type 2A
,
Familial medullary thyroid carcinoma
Centrum Menselijke Erfelijkheid - KUL
Steinert myotonic dystrophy - CTG repeat expansion
DMPK
Steinert myotonic dystrophy
Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type 1 / Legius syndrome (2 genes)
NF1
,
SPRED1
Neurofibromatosis type 1
,
Legius syndrome
Centrum Menselijke Erfelijkheid - KUL
Nijmegen Breakage Syndrome
NBN
Nijmegen breakage syndrome
Centrum Menselijke Erfelijkheid - KUL
RASopathy (gene panel)
RASopathy - KUL
Noonan syndrome
Centrum Menselijke Erfelijkheid - KUL
Noonan syndrome (Screening PTPN11)
PTPN11
Noonan syndrome
,
Noonan syndrome with multiple lentigines
Centrum Menselijke Erfelijkheid - KUL
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