Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Beta-globin hemoglobinopathies (Hot-spot mutations : Sickle cell disease (HBS), hemoglobin C, hemoglobin E or Hemoglobin D) HBB Sickle cell anemia, Hemoglobin C disease, Hemoglobin E disease, Hemoglobin D disease, Delta-beta-thalassemia, Sickle cell-beta-thalassemia disease syndrome, Beta-thalassemia intermedia, Beta-thalassemia major Centre de Génétique Humaine - CHU Sart-Tilman
Carnitine Palmitoyltransferase type II CPT2 Carnitine palmitoyl transferase II deficiency, myopathic form, Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Carnitine Palmitoyl transferase type II CPT2 Carnitine palmitoyl transferase II deficiency, severe infantile form, Carnitine palmitoyl transferase II deficiency, neonatal form, Carnitine palmitoyl transferase II deficiency, myopathic form Centrum Medische Genetica - UZ Antwerpen
Androgen insensitivity (AR gene) AR Partial androgen insensitivity syndrome, Complete androgen insensitivity syndrome Centrum Medische Genetica - UZ Brussel VUB
Leydig cell hypoplasia or Precocious puberty, male-limited LHCGR Familial peripheral male-limited precocious puberty, Leydig cell hypoplasia due to partial LH resistance, Leydig cell hypoplasia due to complete LH resistance Centre de Génétique Humaine - Erasme ULB