Genetic tests

Full name Analytes Gene panels Disease Laboratory
Sex determining region (absence/presence) SRY Centre de Génétique Humaine - CHU Sart-Tilman
Hereditary cancer (Breast, ovary, colon) (26 genes) BRCA1, BRCA2, BARD1, BRIP1, CDH1, MLH1, MSH2, MSH6, MEN1, PTEN, RAD50, RAD51D, STK11, TP53, CHEK2, MUTYH, PALB2, RAD51C, ATM, EPCAM, BLM, NBN, PMS2, XRCC2, ABRAXAS1, MRE11 Cancer (Breast, ovary, colon,…) (26 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Somatic analysis of the BRCA genes in the context of ovarian cancer treatment (BRCA1; BRCA2 genes) BRCA1, BRCA2 Centre de Génétique Humaine - CHU Sart-Tilman
Early-onset severe obesity Early-onset severe obesity (44 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Cerebral folate transport deficiency (2 genes) FOLR1, FOLR2 Cerebral folate transport deficiency (2 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
test (α-D-galactosidase) Centre de Génétique Humaine - CHU Sart-Tilman
Intellectual disability (gene panel) Intellectual disability/Epilepsy (1091 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Inherited Kidney Diseases (Gene Panel) Panel Nephro-ULG-V1 Centre de Génétique Humaine - CHU Sart-Tilman
Erythrocytoses, polycythémies, thrombocytoses et neutropénies congénitales (gene panel) Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Myeloid/lymphoid neoplasms with germline predisposition Centre de Génétique Humaine - CHU Sart-Tilman
Movement Disorders (gene panel) Movement Disorders - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Pancreatitis, idiopathic or hereditary (7 genes) CFTR, SPINK1, PRSS1, CTRC, CASR, CLDN2, CPA1 Pancreatitis (7 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
« Inherited bone marrow failures syndromes » with or without organ dysfunction Hematologic Familiar Forms - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Zygosity (medical) Centre de Génétique Humaine - CHU Sart-Tilman
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
Dihydropyrimidine dehydrogenase deficiency (5-fluorouracil (5-FU) toxicity) - Pharmacogenetics DPYD 5-fluorouracil toxicity, Dihydropyrimidine dehydrogenase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centre de Génétique Humaine - CHU Sart-Tilman
Achondroplasia (hot spot mutation - p.Gly380Arg) FGFR3 Achondroplasia Centre de Génétique Humaine - CHU Sart-Tilman
Alpha-1-antitrypsin deficiency (hot spot mutations - p.Glu342Lys (allele PI-Z), p. Glu264Val (allele PI-S)) SERPINA1 Alpha-1-antitrypsin deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Alzheimer Disease, late onset (AD2) / ApoE2, E3, and E4 isoforms APOE Alzheimer disease (NON RARE IN EUROPE) Centre de Génétique Humaine - CHU Sart-Tilman
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