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
Capillary malformation - arteriovenous malformation (2 genes) RASA1, EPHB4 Capillary/arteriovenous malformation (2 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Capillary malformation-arteriovenous malformation, Vein of Galen aneurysmal malformation, Parkes Weber syndrome Centre de Génétique Médicale UCL
Arteriovenous malformation (gene panel) Arteriovenous malformation (7 genes), Vascular malformations (germline) (38 genes) - UCL Hereditary hemorrhagic telangiectasia, Heritable pulmonary arterial hypertension, Familial cerebral saccular aneurysm, Vein of Galen aneurysmal malformation, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Microcephaly-capillary malformation syndrome Centre de Génétique Médicale UCL
Cholestasis, progressive familial intrahepatic (gene panel) ABCB11, ABCB4, ATP8B1, NR1H4, TJP2 Cholestasis, progressive familial intrahepatic (5 genes) - UCL Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 4, Progressive familial intrahepatic cholestasis type 5, Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 2 Centre de Génétique Médicale UCL
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