Genetic tests

Full name Analytes Gene panels Disease Laboratory
Silver-Russell syndrome 11p15.5, 7p12.1, 7q32.2 Silver-Russell syndrome, Silver-Russell syndrome due to an imprinting defect of 11p15, Silver-Russell syndrome due to 11p15 microduplication Centre de Génétique Médicale UCL
Uniparental disomy 7p12.1, 7q32.2 Silver-Russell syndrome Centre de Génétique Médicale UCL
Hepatorenal disorders (gene panel) BCS1L, CC2D2A, DCDC2, EHHADH, HNF1B, INVS, MKS1, NPHP1, NPHP3, NPHP4, PKHD1, POLG, TMEM216 Hepatorenal disorders (13 genes) - UCL GRACILE syndrome, Mitochondrial DNA-associated Leigh syndrome, Isolated complex III deficiency, Joubert syndrome, Meckel syndrome, Isolated neonatal sclerosing cholangitis, Primary Fanconi renotubular syndrome, HNF1B-related autosomal dominant tubulointerstitial kidney disease, Infantile nephronophthisis, Bardet-Biedl syndrome, Senior-Loken syndrome, Autosomal recessive polycystic kidney disease Centre de Génétique Médicale UCL
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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