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
Schinzel-Giedion midface retraction syndrome SETBP1 Intellectual disability-expressive aphasia-facial dysmorphism syndrome, Schinzel-Giedion syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Multiple epiphyseal dysplasia COL2A1, SLC26A2 Multiple epiphyseal dysplasia type 4 Centrum Medische Genetica - UZ Gent
Bile Acid Primary Malabsorption SLC10A2 Bile acid primary malabsorption Centre de Génétique Médicale UCL