Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Cardiomyopathy, hereditary (gene panel)		Cardiomyopathy, hereditary (208 genes) - VUB	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form, Familial isolated arrhythmogenic ventricular dysplasia, left dominant form, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form, Familial isolated dilated cardiomyopathy, Familial isolated restrictive cardiomyopathy, Left ventricular noncompaction	Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene sequencing)	GBA1		Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease	Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; )	GBA1		Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease	Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Gaucher disease			Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease	Centrum Medische Genetica - UZ Brussel VUB
Macular dystrophy	PRPH2		Butterfly-shaped pigment dystrophy	Centrum Medische Genetica - UZ Gent
Microphthalmia, syndromic 5; Retinal dystrophy, early-onset, and pituitary dysfunction	OTX2		Syndromic microphthalmia type 5, Combined pituitary hormone deficiencies, genetic forms, Butterfly-shaped pigment dystrophy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)