Genetic tests

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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
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*)	ASPA		Mild Canavan disease, Severe Canavan disease	Centrum Medische Genetica - UZ Antwerpen
CYP2C9*2,*3 genotyping - drug metabolism - Pharmacogenetics	CYP2C9		Vitamin K antagonists toxicity or dose selection, Oral antidiabetic drugs toxicity or dose selection	Centre de Génétique Médicale UCL
Hyperoxaluria	AGXT, GRHPR, HOGA1		Primary hyperoxaluria type 1, Primary hyperoxaluria type 2, Primary hyperoxaluria type 3	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)

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