Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
5-fluorouracil (5-FU) toxicity - DPYD sequencing (all exons) - Pharmacogenetics DPYD 5-fluorouracil toxicity Centre de Génétique Médicale UCL
Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil (5-FU) toxicity) - Pharmacogenetics DPYD 5-fluorouracil toxicity, Dihydropyrimidine dehydrogenase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
5-fluorouracil toxicity - DPYD genotyping (4 hot spot mutations - DPYD*2A, DPYD*13, D949V, HapB3) - Pharmacogenetics DPYD 5-fluorouracil toxicity Centre de Génétique Médicale UCL
Dihydropyrimidine dehydrogenase deficiency; 5-fluorouracil toxicity - pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3) - Pharmacogenetics DPYD Dihydropyrimidine dehydrogenase deficiency Centrum Medische Genetica - UZ Gent
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3) DPYD Dihydropyrimidine dehydrogenase deficiency Centrum Menselijke Erfelijkheid - KUL
Rhabdomyosarcoma DICER1, NF1, TP53 Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type 1 / Legius syndrome (2 genes) NF1, SPRED1 Neurofibromatosis type 1, Legius syndrome Centrum Menselijke Erfelijkheid - KUL
Paraganglioma-pheochromocytoma (gene panel) SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1 Paraganglioma-pheochromocytoma (7 genes) - KUL Hereditary pheochromocytoma-paraganglioma Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type I NF1 Neurofibromatosis type 1 Centre de Génétique Médicale UCL
Neurofibromatosis type 1 / Legius syndrome NF1, SPRED1 Neurofibromatosis type 1, Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, 17q11 microdeletion syndrome, Legius syndrome Centrum Medische Genetica - UZ Gent
Hereditary cancer (Breast, ovary, colon) (26 genes) BRCA1, BRCA2, BARD1, BRIP1, CDH1, MLH1, MSH2, MSH6, MEN1, PTEN, RAD50, RAD51D, STK11, TP53, CHEK2, MUTYH, PALB2, RAD51C, ATM, EPCAM, BLM, NBN, PMS2, XRCC2, ABRAXAS1, MRE11 Cancer (Breast, ovary, colon,…) (26 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - KUL Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Menselijke Erfelijkheid - KUL
Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP Spinocerebellar ataxia (types 1, 2, 3, 6, 7, 17) (6 genes) - IPG Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7, Spinocerebellar ataxia type 17 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7 - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - UZA Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) - CAG repeat expansion ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - VUB Spinocerebellar ataxia type 1, Spinocerebellar ataxia type 2, Machado-Joseph disease type 3, Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 7 Centrum Medische Genetica - UZ Brussel VUB
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