Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Beta-globin hemoglobinopathies HBB Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Sickle cell-beta-thalassemia disease syndrome, Sickle cell-hemoglobin D disease syndrome, Sickle cell-hemoglobin E disease syndrome, Sickle cell-hemoglobin C disease syndrome, Hemoglobin E-beta-thalassemia syndrome, Hemoglobin C-beta-thalassemia syndrome, Delta-beta-thalassemia, Beta-thalassemia intermedia, Beta-thalassemia major, Dominant beta-thalassemia, Hemoglobin C disease, Hemoglobin D disease, Hemoglobin E disease, Hemoglobin M disease, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, Sickle cell anemia Centre de Génétique Médicale UCL
Beta-globin hemoglobinopathies HBB Sickle cell anemia, Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Sickle cell-hemoglobin D disease syndrome, Sickle cell-hemoglobin E disease syndrome, Sickle cell-beta-thalassemia disease syndrome, Sickle cell-hemoglobin C disease syndrome, Hemoglobin C disease, Hemoglobin E disease, Hemoglobin E-beta-thalassemia syndrome, Hemoglobin C-beta-thalassemia syndrome, Delta-beta-thalassemia, Beta-thalassemia intermedia, Beta-thalassemia major, Hemoglobin Lepore-beta-thalassemia syndrome, Hemoglobin M disease, Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, Hemoglobin D disease Centre de Génétique Humaine - Erasme ULB
Beta-globin hemoglobinopathies (full sequencing) HBB Sickle cell anemia, Sickle cell-hemoglobin D disease syndrome, Sickle cell-hemoglobin E disease syndrome, Sickle cell-beta-thalassemia disease syndrome, Hemoglobin C disease, Hemoglobin E disease, Hemoglobin M disease, Delta-beta-thalassemia, Dominant beta-thalassemia Centre de Génétique Humaine - CHU Sart-Tilman
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (hot spot mutation - c.907_909delGAG) TOR1A Early-onset generalized limb-onset dystonia Centre de Génétique Humaine - Erasme ULB
Multiple epiphyseal dysplasia COL2A1, SLC26A2 Multiple epiphyseal dysplasia type 4 Centrum Medische Genetica - UZ Gent
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