Genetic tests

Full name Analytes Gene panels Disease Laboratory
Achondroplasia (hot spot mutation - p.Gly380) FGFR3 Achondroplasia 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, 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
Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes) Ataxia (348 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c) Yq11 Partial chromosome Y deletion Centre de Génétique Humaine - Erasme ULB
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, Sickle cell anemia, Sickle cell disorder (hot spot mutation - p.Glu6Val, p.Glu6Lys) HBB Sickle cell anemia Centre de Génétique Humaine - Erasme ULB
Breast and Ovarian cancer, HBOC, familial (gene panel - 17 genes) BRCA1, BRCA2, TP53, PALB2, CHEK2, BRIP1, RAD51C, RAD51D, MLH1, MSH2, MSH6, ATM Breast/Ovarian cancer (17 genes) - ULB Hereditary breast cancer Centre de Génétique Humaine - Erasme ULB
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies Centre de Génétique Humaine - Erasme ULB
Congenital malformation (gene panel - 1721 genes) Congenital malformation (1721 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (88 hot spot mutations) CFTR Cystic fibrosis, Hereditary chronic pancreatitis, Congenital bilateral absence of vas deferens, Idiopathic bronchiectasis Centre de Génétique Humaine - Erasme ULB
Frequent hearing deficiency (4 genes) GJB2, GJB6, STRC, OTOA Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique Humaine - Erasme ULB
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
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centre de Génétique Humaine - Erasme ULB
Hereditary spastic paraplegia (gene panel - 249 genes) Hereditary spastic paraplegia (188 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Huntington disease - CAG repeat expansion HTT Huntington disease Centre de Génétique Humaine - Erasme ULB
Neurodevelopmental disorders (1300 genes) Neurodevelopmental disorders (1300 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Neuromuscular disorders (548 genes) Neuromuscular disorders (548 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Periodic Fever (88 genes) Periodic Fever (88 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Thiopurine S-Methyltransferase deficiency - TPMT genotyping c.238G>C (rs1800462); c.460G>A (rs1800460); c.719A>G (rs1142345)) - Pharmacogenetics TPMT Azathioprine or 6-mercatopurine toxicity or dose selection Centre de Génétique Humaine - Erasme ULB
Phenylketonuria PAH Classic phenylketonuria Centre de Génétique Humaine - Erasme ULB
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