Genetic tests | Belgian Genetic Tests database

Full name	Analytes	Gene panels	Disease	Laboratory
Mc Ardle disease, glycogene storage disease type V	PYGM		Glycogen storage disease due to muscle glycogen phosphorylase deficiency	Centre de Génétique Humaine - CHU Sart-Tilman
Gorlin syndrome (gene panel)	PTCH1, PTCH2, SUFU	Gorlin syndrome (3 genes)	Gorlin syndrome	Centre de Génétique Médicale UCL
Medulloblastoma (gene panel)	SUFU, TP53, PTCH1	Medulloblastoma (3 genes) - KUL	Medulloblastoma	Centrum Menselijke Erfelijkheid - KUL
Medulloblastoma (3 genes)	PTCH1, PTCH2, SUFU	Medulloblastoma (3 genes) - UCL	Medulloblastoma , Gorlin syndrome	Centre de Génétique Médicale UCL
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)
Factor V- cambridge, liverpool and hong kong variant (hot spot mutations - p.Arg334Thr, p.Arg306)	F5		Congenital factor V deficiency	Centre de Génétique Humaine - CHU Sart-Tilman

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