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
Primary lymphedema / fetal hydrops (gene panel) Lymphedema / fetal hydrops (27 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome, Cardiofaciocutaneous syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Noonan syndrome, Oculodentodigital dysplasia, Microcephaly-lymphedema-chorioretinopathy syndrome, Milroy disease, Lymphedema-distichiasis syndrome, Lymphedema-posterior choanal atresia syndrome, Hennekam syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Lymphangioleiomyomatosis Centre de Génétique Médicale UCL
Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, adult form, Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form Centrum Medische Genetica - UZ Antwerpen
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form, Tay-Sachs disease, B1 variant, Tay-Sachs disease, B variant, adult form Centrum Medische Genetica - UZ Brussel VUB
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
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