Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
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
Congenital hemangioma (2 genes)	GNAQ, GNA11		Familial multiple nevi flammei, Sturge-Weber syndrome, Uveal melanoma	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
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