Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Retinoblastoma RB1 Hereditary retinoblastoma, Non-hereditary retinoblastoma Centrum Menselijke Erfelijkheid - KUL
Retinoblastoma RB1 Hereditary retinoblastoma, Non-hereditary retinoblastoma Centre de Génétique Médicale UCL
Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene) C9ORF72 Amyotrophic lateral sclerosis, Frontotemporal dementia with motor neuron disease, Behavioral variant of frontotemporal dementia, Huntington disease-like syndrome due to C9ORF72 expansions Centrum Menselijke Erfelijkheid - KUL
X-linked creatine deficiency SLC6A8 X-linked creatine transporter deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Enzymatic dosage MPS1/Hurler syndrome Hurler-Scheie syndrome, Hurler syndrome Centrum Medische Genetica - UZ Brussel VUB
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