Genetic tests | Belgian Genetic Tests database

Full name	Analytes	Gene panels	Disease	Laboratory
Dysautonomia, familial (FD) (hot spot mutation - c.2204+6T>C)	ELP1		Familial dysautonomia	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
Hereditary angioneurotic edema (2 genes)	F12, SERPING1		C1 inhibitor deficiency, Hereditary angioedema type 1, Hereditary angioedema type 2	Centre de Génétique Médicale UCL
Hereditary angioedema type III (F12 gene - hot spot mutations - p.Thr328Lys; p. Thr328Arg)	F12		F12-related hereditary angioedema with normal C1Inh	Centre de Génétique Humaine - CHU Sart-Tilman
Hereditary Angioedema (7 genes)	PLG, F12, SERPING1, ANGPT1, KNG1	Angioedema (7 genes) - IPG	F12-related hereditary angioedema with normal C1Inh, Hereditary angioedema type 1, Hereditary angioedema type 2, PLG-related hereditary angioedema with normal C1Inh	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Cerebral cavernous malformation (gene panel)	KRIT1, CCM2, PDCD10	Cerebral cavernous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL	Familial cerebral cavernous malformation	Centre de Génétique Médicale UCL
MUC1-VNTR insertion	MUC1		MUC1-related autosomal dominant tubulointerstitial kidney disease	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)

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