Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Silver-Russell syndrome	11p15.5, 7p12.1, 7q32.2		Silver-Russell syndrome, Silver-Russell syndrome due to an imprinting defect of 11p15, Silver-Russell syndrome due to 11p15 microduplication	Centre de Génétique Médicale UCL
Uniparental disomy	7p12.1, 7q32.2		Silver-Russell syndrome	Centre de Génétique Médicale UCL
Hereditary Polyposis Panel (11 genes) - ULG	APC, MUTYH, BMPR1A, NTHL1, SMAD4, MSH3, POLE, POLD1, PTEN, STK11, GREM1	Hereditary Polyposis Panel (11 genes) - ULG	Familial adenomatous polyposis, MUTYH-related attenuated familial adenomatous polyposis, Turcot syndrome with polyposis, Hereditary mixed polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli	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