Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Craniosynostosis syndromes (Apert, Crouzon)	FGFR2		Crouzon syndrome, Apert syndrome	Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Crouzon syndrome (hot spot mutation - exon 9)	FGFR3		Crouzon syndrome	Centre de Génétique Humaine - CHU Sart-Tilman
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
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)	BSCL2		Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)