Genetic tests

Full name Analytes Gene panels Disease Laboratory
Usher syndrome, type IIA USH2A Usher syndrome type 2 Centrum Medische Genetica - UZ Gent
Usher syndrome (gene panel) CDH23, CLRN1, WHRN, ADGRV1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A Usher syndrome (10 genes) - UZA Centrum Medische Genetica - UZ Antwerpen
Globozoospermia (DPY19L2 gene) DPY19L2 Male infertility due to globozoospermia Centrum Medische Genetica - UZ Brussel VUB
Coagulopathies (2 genes) ITGA2B, ITGB3 Autosomal dominant macrothrombocytopenia, Glanzmann thrombasthenia, Fetal and neonatal alloimmune thrombocytopenia Centre de Génétique Médicale UCL
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
Creatine deficiency by Guanidinoacetate methyltransferase deficiency (2 genes) GAMT, GATM Guanidinoacetate methyltransferase deficiency, L-Arginine:glycine amidinotransferase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Download XLSX
Download PDF