Genetic tests

Full name Analytes Gene panels Disease Laboratory
X-linked hydrocephalia / CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndrome (L1CAM gene) L1CAM Hydrocephalus with stenosis of the aqueduct of Sylvius Centrum Medische Genetica - UZ Brussel VUB
Hereditary Melanoma Panel (7 genes) CDKN2A, CDK4, POT1, TERT, TERF2IP, BAP1, MITF Hereditary Melanoma Panel (7 genes) - ULG Familial melanoma Centre de Génétique Humaine - CHU Sart-Tilman
Malignant Mesothelioma (BAP1; CDKN2A genes) BAP1, CDKN2A Centrum Menselijke Erfelijkheid - KUL
Melanoma (6 genes) BAP1, CDK4, CDKN2A, MC1R, MITF, POT1 Melanoma (6 genes) - UCL Familial melanoma, MITF-related melanoma and renal cell carcinoma predisposition syndrome, Uveal melanoma, Melanoma of soft tissue Centre de Génétique Médicale UCL
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion ATXN8, ATXN10, PPP2R2B, TBP Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 10, Spinocerebellar ataxia type 12, Spinocerebellar ataxia type 17 Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion ATXN8, TBP, ATN1 Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 17, Dentatorubral pallidoluysian atrophy Centrum Medische Genetica - UZ Brussel VUB
ABCB1 genotyping (c.3435C>T, c.1199G>A ) - Transport protein - Pharmacogenetics ABCB1 Resistance to colchicine Centre de Génétique Médicale UCL
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