Genetic tests

2050100

Search

Full name	Analytes	Gene panels	Disease	Laboratory
Enzymatic dosage Pompe disease			Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset	Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene)	GAA		Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset	Centrum Medische Genetica - UZ Brussel VUB
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, phenotype modifiers (hot spot mutations - rs7482144 (Xmn1) at promoter 158 bp 5′ upstream of HBG2 / 32C-T in the 5' UTR of the HBS1L)	BCL11A, HBG2, HBS1L	Beta-globin hemoglobinopathies, phenotype modifiers ( 3 genes) - ULB	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome, Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome, Hemoglobinopathy Toms River	Centre de Génétique Humaine - Erasme ULB

Download XLSX

Download PDF