Genetic tests | Belgian Genetic Tests database

Full name	Analytes	Gene panels	Disease	Laboratory
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)	CACNA1S		Hypokalemic periodic paralysis	Centrum Medische Genetica - UZ Brussel VUB
Malignant hypertermia	RYR1, CACNA1S		Malignant hyperthermia of anesthesia	Centrum Medische Genetica - UZ Gent
Overgrowth & vascular anomalies / Proteus syndrome (c.49G>A (p.Glu17Lys) mutation)	AKT1		Proteus syndrome	Centrum Menselijke Erfelijkheid - KUL
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
Capillary malformation - arteriovenous malformation (2 genes)	RASA1, EPHB4	Capillary/arteriovenous malformation (2 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL	Capillary malformation-arteriovenous malformation, Vein of Galen aneurysmal malformation, Parkes Weber syndrome	Centre de Génétique Médicale UCL
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*)	ASPA		Mild Canavan disease, Severe Canavan disease	Centrum Medische Genetica - UZ Antwerpen
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

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