Genetic tests

Full name Analytes Gene panels Disease Laboratory
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) MT-TK MERRF Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) (1st tier) MT-TK MERRF Centrum Medische Genetica - UZ Brussel VUB
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (full sequencing) (2nd tier) MT-TK MERRF Centrum Medische Genetica - UZ Brussel VUB
Adrenoleukodystrophy, X-linked ABCD1 X-linked cerebral adrenoleukodystrophy Centre de Génétique Humaine - CHU Sart-Tilman
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
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centrum Menselijke Erfelijkheid - KUL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centrum Medische Genetica - UZ Gent
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)