Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Parathyroid tumor (gene panel) CASR, CDC73, MEN1, RET Parathyroid tumor (4 genes) - KUL Neonatal severe primary hyperparathyroidism, Familial hypocalciuric hypercalcemia type 1, Autosomal dominant hypocalcemia Centrum Menselijke Erfelijkheid - KUL
Hypocalciuric hypercalcemia, familial type I or Hypocalcemia or Hypoparathyroidism, familial isolated (CASR gene) CASR Familial hypocalciuric hypercalcemia type 1, Autosomal dominant hypocalcemia Centrum Medische Genetica - UZ Brussel VUB
Hypocalciuric hypercalcemia, familial type I or Hypocalcemia or Hyperparathyroidism, familial isolated (CASR gene) CASR Autosomal dominant hypocalcemia, Familial hypocalciuric hypercalcemia type 1, Neonatal severe primary hyperparathyroidism Centre de Génétique Humaine - CHU Sart-Tilman
Hypocalciuric Hypercalcemia, Neonatal Severe Hyperparathyroidism, Hypocalcemia CASR Neonatal severe primary hyperparathyroidism, Familial hypocalciuric hypercalcemia type 1, Autosomal dominant hypocalcemia Centrum Menselijke Erfelijkheid - KUL
Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR) STAT1 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Susceptibility to viral and mycobacterial infections due to STAT1 deficiency, Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Centrum Menselijke Erfelijkheid - KUL