Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hepatorenal disorders (gene panel) BCS1L, CC2D2A, DCDC2, EHHADH, HNF1B, INVS, MKS1, NPHP1, NPHP3, NPHP4, PKHD1, POLG, TMEM216 Hepatorenal disorders (13 genes) - UCL GRACILE syndrome, Mitochondrial DNA-associated Leigh syndrome, Isolated complex III deficiency, Joubert syndrome, Meckel syndrome, Isolated neonatal sclerosing cholangitis, Primary Fanconi renotubular syndrome, HNF1B-related autosomal dominant tubulointerstitial kidney disease, Infantile nephronophthisis, Bardet-Biedl syndrome, Senior-Loken syndrome, Autosomal recessive polycystic kidney disease 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
Myeloid neoplasms with germline predisposition (Hereditary MDS/Acute Leukemia) (gene panel) Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel) B-cell chronic lymphocytic leukemia, Inherited acute myeloid leukemia, Chronic myeloid leukemia, Atypical chronic myeloid leukemia, Precursor B-cell acute lymphoblastic leukemia, Familial platelet disorder with associated myeloid malignancy, DDX41-related hematologic malignancy predisposition syndrome, Idiopathic aplastic anemia Centre de Génétique Humaine - CHU Sart-Tilman
Download XLSX
Download PDF