Genetic tests

Full name Analytes Gene panels Disease Laboratory
Autoimmune disease, multisystem, infantile-onset (ADMIO) / Hyper-IgE recurrent infection syndrome STAT3 STAT3-related early-onset multisystem autoimmune disease, Autosomal dominant hyper-IgE syndrome Centrum Menselijke Erfelijkheid - KUL
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
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
Microsatellites instability analysis- MMR genes MLH1, MSH2, MSH6, PMS2 Lynch syndrome, Constitutional mismatch repair deficiency syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes) SMARCB1, SMARCA4 Rhabdoid tumor predisposition syndrome Centrum Menselijke Erfelijkheid - KUL
Gilbert syndrome (homozygous A(TA)7TAA allele) UGT1A1 Gilbert syndrome (NON RARE IN EUROPE) Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) - Pharmacogenetics UGT1A1 Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity Centre de Génétique Humaine - Erasme ULB
Gilbert disease / Irinotecan sensitivity / Raltegravir toxicity - Pharmacogenetics UGT1A1 Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity Centre de Génétique Humaine - CHU Sart-Tilman
Gilbert syndrome / Irinotecan sensitivity (homozygous A(TA)7TAA allele) UGT1A1 Gilbert syndrome (NON RARE IN EUROPE), Irinotecan toxicity, Transient familial neonatal hyperbilirubinemia Centrum Menselijke Erfelijkheid - KUL