Genetic tests

Full name Analytes Gene panels Disease Laboratory
Waardenburg Syndrome types I and III PAX3 Waardenburg syndrome type 1, Waardenburg syndrome type 3 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 Waardenburg syndrome (6 genes) - UZA Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 3, Waardenburg-Shah syndrome Centrum Medische Genetica - UZ Antwerpen
Bronchiectasis (4 genes) CFTR, SCNN1A, SCNN1B, SCNN1G Bronchiectasis (4 genes) - UCL Idiopathic bronchiectasis Centre de Génétique Médicale UCL
Bronchiectasies with or without elevated sweat chloride panel (5 genes) CFTR, SCNN1A, SCNN1B, SCNN1G Pulmonary/Bronchiectasies (5 genes) - IPG Idiopathic bronchiectasis, Cystic fibrosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
filaggrin gene FLG NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris, DERMATITIS, ATOPIC Centre de Génétique Humaine - CHU Sart-Tilman