Genetic tests | Belgian Genetic Tests database

Full name	Analytes	Gene panels	Disease	Laboratory
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)	MT-ND1, MT-ND4, MT-ND6		Leber hereditary optic neuropathy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)	MT-ND1, MT-ND4, MT-ND6	LHON (3 genes) - VUB	Leber hereditary optic neuropathy	Centrum Medische Genetica - UZ Brussel VUB
Myoclonic epilepsy of Unverricht and Lundborg / Progressive myoclonus epilepsy /Baltic myoclonic epilepsy	CSTB		Progressive myoclonic epilepsy type 1	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Arterial Tortuosity Syndrome	SLC2A10, EFEMP2		Arterial tortuosity syndrome	Centrum Medische Genetica - UZ Gent
Congenital hemangioma (2 genes)	GNAQ, GNA11		Familial multiple nevi flammei, Sturge-Weber syndrome, Uveal melanoma	Centrum Menselijke Erfelijkheid - KUL
Hypocalciuric hypercalcemia, familial type II	GNA11		Familial hypocalciuric hypercalcemia type 2	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

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