Genetic tests

Full name Analytes Gene panels Disease Laboratory
Congenital myotonia (Becker-Thomsen disease) (CLCN1 gene) CLCN1 Thomsen and Becker disease 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 (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
Colon carcinoma (hereditary/familial) (gene panel) Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB APC-related attenuated familial adenomatous polyposis, Familial adenomatous polyposis, Familial colorectal cancer Type X, Generalized juvenile polyposis/juvenile polyposis coli, Hereditary mixed polyposis syndrome, Hereditary nonpolyposis colorectal cancer, Lynch syndrome, MUTYH-related attenuated familial adenomatous polyposis Centrum Medische Genetica - UZ Brussel VUB
Microsatellite instability analysis Lynch syndrome Centrum Menselijke Erfelijkheid - KUL
Adenomatous polyposis, familial (gene panel) APC, MUTYH, BMPR1A, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, NTHL1, PMS2, POLD1, POLE, PTEN, STK11, CDH1, SMAD4, TP53 Familial adenomatous polyposis, MUTYH-related attenuated familial adenomatous polyposis, Hereditary nonpolyposis colorectal cancer, Lynch syndrome Centre de Génétique Médicale UCL
Hereditary nonpolyposis colorectal cancer (gene panel) MLH1, MSH2, MSH6, PMS2, EPCAM, APC, BMPR1A, CDH1, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, STK11, SMAD4, TP53 Hereditary nonpolyposis colorectal cancer, Lynch syndrome, Constitutional mismatch repair deficiency syndrome Centre de Génétique Médicale UCL
Hypermethylation promoter MLH1 MLH1 Lynch syndrome Centrum Medische Genetica - UZ Gent
Microsatellite instability analysis Hereditary nonpolyposis colorectal cancer, Lynch syndrome Centrum Medische Genetica - UZ Gent
Constitutional Mismatch Repair Deficiency Syndrome (4 genes) Constitutional Mismatch Repair Deficiency Syndrome (4 genes) - KUL Constitutional mismatch repair deficiency syndrome, Lynch syndrome Centrum Menselijke Erfelijkheid - KUL
Hereditary nonpolyposis colorectal cancer / Lynch syndrome (8 genes) MLH1, MSH2, MSH6, EPCAM, MUTYH, POLE, POLD1, TP53 Hereditay Non Polyposis Colorectal Cancer (8 genes) - ULG Lynch syndrome, Constitutional mismatch repair deficiency syndrome, Hereditary nonpolyposis colorectal cancer Centre de Génétique Humaine - CHU Sart-Tilman
Lynch-like syndrome MLH1 Lynch syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Hypermethylation promoter MLH1 and p.V600 of BRAF1 MLH1, BRAF Lynch syndrome Centrum Menselijke Erfelijkheid - KUL
Microsatellites instability analysis- MMR genes MLH1, MSH2, MSH6, PMS2 Lynch syndrome, Constitutional mismatch repair deficiency syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique Médicale UCL
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centrum Medische Genetica - UZ Gent
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Fragile X syndrome/FXPOI/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centrum Medische Genetica - UZ Antwerpen
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centre de Génétique Humaine - Erasme ULB