Genetic tests

Full name Analytes Gene panels Disease Laboratory
Cardiofaciocutaneous syndrome (5 genes) HRAS, KRAS, BRAF, MAP2K2, MAP2K1 Cardiofaciocutaneous syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Vascular malformations (somatic) AKT1, AKT2, AKT3, ALK, BRAF, GNA11, GNA14, GNAQ, HRAS, IDH1, IDH2, KRAS, NRAS, PIK3CA, PIK3R1, PIK3R2, PTEN, TEK, MAP3K3, MAP2K1 Vascular malformations (somatic) (19 genes) - UCL Capillary malformation-arteriovenous malformation, CLOVES syndrome, Maffucci syndrome, Proteus syndrome Centre de Génétique Médicale UCL
Hypermethylation promoter MLH1 and p.V600 of BRAF1 MLH1, BRAF Lynch syndrome Centrum Menselijke Erfelijkheid - KUL
Lynch syndrome - MLH1 promoter hypermethylation and BRAF V600E mutation MLH1, BRAF Selection of therapeutic option in colorectal cancer Centre de Génétique Humaine - CHU Sart-Tilman
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations) ASPA, ELP1, HEXA, FANCC Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA Centrum Medische Genetica - UZ Antwerpen
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
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