Genetic tests

Full name Analytes Gene panels Disease Laboratory
Achondroplasia (hot spot mutation - p.Glu380Arg in FGFR3 gene) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Gent
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Antwerpen
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centre de Génétique Humaine - Erasme ULB
Achondroplasia (FGFR3 hot spot mutation - p.Gly380) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Brussel VUB
Achondroplasia (hot spot mutation - p.Gly380Arg) FGFR3 Achondroplasia Centre de Génétique Humaine - CHU Sart-Tilman
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
Leigh syndrome COX15 Leigh syndrome with leukodystrophy, Leigh syndrome with cardiomyopathy Centrum Medische Genetica - UZ Brussel VUB
Ocular albinism and oculocutaneous albinism type 1, 2, 3, 4, 6, 7, 8 (gene panel) TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, GPR143 Ocular and oculocutaneous albinism - UGent Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B, Oculocutaneous albinism type 2, Oculocutaneous albinism type 3, Oculocutaneous albinism type 4, Oculocutaneous albinism type 6, Oculocutaneous albinism type 7 Centrum Medische Genetica - UZ Gent