Genetic tests

Full name Analytes Gene panels Disease Laboratory
Waardenburg Syndrome types I and III PAX3 Waardenburg syndrome type 1, Waardenburg syndrome type 3 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 Waardenburg syndrome (6 genes) - UZA Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 3, Waardenburg-Shah syndrome Centrum Medische Genetica - UZ Antwerpen
Sturge-Weber syndrome (gene panel) Sturge-Weber syndrome (65 genes) - KUL Sturge-Weber syndrome Centrum Menselijke Erfelijkheid - KUL
Congenital hemangioma (2 genes) GNAQ, GNA11 Familial multiple nevi flammei, Sturge-Weber syndrome, Uveal melanoma Centrum Menselijke Erfelijkheid - KUL
Clouston syndrome GJB6 Hidrotic ectodermal dysplasia Centrum Medische Genetica - UZ Antwerpen
Ectodermal dysplasia GJB6 Hidrotic ectodermal dysplasia Centrum Medische Genetica - UZ Antwerpen
Occipital horn syndrome / Distal Spinal Muscular atrophy ATP7A Occipital horn syndrome, X-linked distal spinal muscular atrophy type 3 Centrum Medische Genetica - UZ Gent
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