Genetic tests

Full name Analytes Gene panels Disease Laboratory
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XX testicular difference of sex development, 46,XY complete gonadal dysgenesis, 46,XY partial gonadal dysgenesis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Sex determining region Y SRY 45,X/46,XY mixed gonadal dysgenesis, 46,XY complete gonadal dysgenesis, 46,XX ovotesticular difference of sex development, 46,XY partial gonadal dysgenesis, 46,XX testicular difference of sex development Centre de Génétique Humaine - CHU Sart-Tilman
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
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
Uniparental Disomy (UDP7; UDP11; UDP14; UDP15; UDP16) Paternal uniparental disomy of chromosome 7, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11, Temple syndrome due to maternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Maternal uniparental disomy of chromosome 16 Centrum Medische Genetica - UZ Gent
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centre de Génétique Médicale UCL
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centrum Medische Genetica - UZ Gent
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centrum Medische Genetica - UZ Antwerpen
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centrum Menselijke Erfelijkheid - KUL
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Prader-Willi syndrome due to imprinting mutation, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Centre de Génétique Humaine - Erasme ULB
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centre de Génétique Humaine - CHU Sart-Tilman
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