Genetic tests

Full name Analytes Gene panels Disease Laboratory
Neurofibromatosis type 2 NF2 Full NF2-related schwannomatosis Centrum Medische Genetica - UZ Gent
Lipodystrophy (2 genes) AGPAT2, BSCL2 Lipodystrophy (2 genes) - IPG Congenital generalized lipodystrophy, Severe neurodegenerative syndrome with lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 1 AGPAT2 Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His) BSCL2 Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Primary cardiac arrhythmias (Atrial fibrillation / Brugada syndome / Catech. polymorphic ventricular tachycardia / Early repolaristion syndrome / Ideopathic ventricular fibrillation / Long QT syndrome / Sick sinus syndrome / Short QT syndrome) (gene pane) AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, GPD1L, HCN4, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ8, KCNQ1, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, TRPM4, KCND3, KCNJ5 Primary cardiac arrhythmias (113 genes) - VUB Andersen-Tawil syndrome, Brugada syndrome, Catecholaminergic polymorphic ventricular tachycardia, Early repolarization syndrome, Familial atrial fibrillation, Familial short QT syndrome, Familial sick sinus syndrome, Familial long QT syndrome, Idiopathic ventricular fibrillation, non Brugada type, Jervell and Lange-Nielsen syndrome Centrum Medische Genetica - UZ Brussel VUB
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