Genetic tests

Full name Analytes Gene panels Disease Laboratory
Netherton syndrome (SPINK5 gene) SPINK5 Netherton syndrome Centrum Medische Genetica - UZ Brussel VUB
Colon carcinoma (hereditary/familial) (gene panel) Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB APC-related attenuated familial adenomatous polyposis, Familial adenomatous polyposis, Familial colorectal cancer Type X, Generalized juvenile polyposis/juvenile polyposis coli, Hereditary mixed polyposis syndrome, Hereditary nonpolyposis colorectal cancer, Lynch syndrome, MUTYH-related attenuated familial adenomatous polyposis 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-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
Stickler syndrome (gene panel) Stickler syndrome - UGent Stickler syndrome type 1, Stickler syndrome type 2, Autosomal dominant otospondylomegaepiphyseal dysplasia Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel) COL2A1, COL11A1, COL9A1, COL9A2 Stickler syndrome (4 genes) - UZA Stickler syndrome type 1, Stickler syndrome type 2, Autosomal recessive Stickler syndrome Centrum Medische Genetica - UZ Antwerpen
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