Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Familial Exudative Vitreoretinopathy, autosomal dominant	FZD4, TSPAN12, LRP5, NDP	Exudative Vitreoretinopathy - UGent	Familial exudative vitreoretinopathy	Centrum Medische Genetica - UZ Gent
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)	ACADM		Medium chain acyl-CoA dehydrogenase deficiency	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM)	ACADM		Medium chain acyl-CoA dehydrogenase deficiency	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM gene)	ACADM		Medium chain acyl-CoA dehydrogenase deficiency	Centrum Medische Genetica - UZ Brussel VUB
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)	ACADM		Medium chain acyl-CoA dehydrogenase deficiency	Centre de Génétique Humaine - CHU Sart-Tilman
Alport autosomal recessive and X-linked and hematuria (3 genes)	COL4A3, COL4A4, COL4A5	Alport (X-linked and recessive) (3 genes) - IPG	Autosomal recessive Alport syndrome, X-linked Alport syndrome	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity	COL4A1, COL4A2		Familial porencephaly, HANAC syndrome, Retinal arterial tortuosity	Centrum Medische Genetica - UZ Gent