Genetic tests

Full name Analytes Gene panels Disease Laboratory
Endocrine Disorders - Hypothyroidism (gene panel - 42 genes) Endocrine Disorders - Hypothyroidism (42 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Endocrine Disorders - Hyper(Hypo)parathyroidism (gene panel - 24 genes) Endocrine Disorders - Hyper(Hypo)parathyroidism (24 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Albright hereditary osteodystrophy GNAS Pseudopseudohypoparathyroidism, Pseudohypoparathyroidism type 1A, Pseudohypoparathyroidism type 1C Centre de Génétique Humaine - Erasme ULB
Algrove syndrome (Triple A syndrome) AAAS Triple A syndrome 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
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
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
Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes) Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB 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
Early onset epileptic encephalopathy (gene panel - 845 genes) Early onset epileptic encephalopathy (845 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Hemochromatosis (17 genes) Hemochromatosis (17 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Hereditary Hemolytic Anemias due to unknown or doubtful origin (gene panel - 52 genes) Hereditary Hemolytic Anemias (52 genes) - ULB 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
Hyperthyroidism ( familial gestational or familial nonautoimmune, hypothyroidism, thyrotropin) - TSHR TSHR Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism Centre de Génétique Humaine - Erasme ULB
Hypochondroplasia (full sequencing) FGFR3 Hypochondroplasia Centre de Génétique Humaine - Erasme ULB
Leydig cell hypoplasia or Precocious puberty, male-limited LHCGR Familial peripheral male-limited precocious puberty, Leydig cell hypoplasia due to partial LH resistance, Leydig cell hypoplasia due to complete LH resistance Centre de Génétique Humaine - Erasme ULB
Multiple Endocrine Neoplasia type 2A and 2B / Familial medullary thyroid carcinoma RET Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia type 2B, Familial medullary thyroid carcinoma Centre de Génétique Humaine - Erasme ULB
Neurodevelopmental disorders (1300 genes) Neurodevelopmental disorders (1300 genes) - ULB Centre de Génétique Humaine - Erasme ULB
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