Genetic tests

Full name Analytes Gene panels Disease Laboratory
Brugada syndrome SCN5A Brugada syndrome Centrum Medische Genetica - UZ Gent
Inherited cardiac arrhytmia (gene panel) ANK2, CALM1, CASQ2, CAV3, KCNH2, KCNJ2, KCNQ1, RYR2, SCN5A, TRDN Inherited cardiac arrhytmia (25 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Primary Electrical disorders / Brugada syndrome / Long QT syndrome (LQT) / Short QT syndrome (SQT) / Arrhythmogenic right ventricular cardiomyopathy (ARVC) / Catecholaminergic polymorphic ventricular tachycardia (CPVT) (gene panel) ABCB4, ABCC9, ACTN2, AKAP9, ANK2, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DES, DPP6, DSC2, DSG2, DSP, GJA1, GJA5, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LMNA, NKX2-5, NOS1AP, NPPA, PKP2, PLN, PRKAG2, RANGRF, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SLMAP, SNTA1, TGFB3, TMEM43, TRDN, TRPM4, CACNA2D1, KCNK17, RRAD, PPA2, GNB5 Primary Electrical disorders/Brugada syndrome (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
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
Cholestasis (gene panel) ABCB11, ABCB4, AKR1D1, AMACR, ATP8B1, BAAT, BCS1L, CC2D2A, CLDN1, CYP27A1, CYP7B1, DCDC2, DGUOK, HNF1B, HSD3B7, INVS, JAG1, MKS1, MPV17, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PKHD1, PNPLA3, POLG, SLC25A13, SMPD1, TJP2, TALDO1, TMC4, TMEM216, TM6SF2, TRMU, UGT1A1, VIPAS39, VPS33B Cholestasis (40 genes) - UCL Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 3, Intrahepatic cholestasis of pregnancy, Congenital bile acid synthesis defect type 2, Congenital bile acid synthesis defect type 4, Progressive familial intrahepatic cholestasis type 1, Familial hypercholanemia, GRACILE syndrome, Isolated complex III deficiency, Meckel syndrome, Joubert syndrome, Congenital bile acid synthesis defect type 3, Isolated neonatal sclerosing cholangitis, Neonatal ichthyosis-sclerosing cholangitis syndrome, Infantile nephronophthisis, HNF1B-related autosomal dominant tubulointerstitial kidney disease, Congenital bile acid synthesis defect type 1, Alagille syndrome due to a JAG1 point mutation, Bardet-Biedl syndrome, Alagille syndrome due to a NOTCH2 point mutation, Niemann-Pick disease type C, severe perinatal form, Niemann-Pick disease type C, late infantile neurologic onset, Niemann-Pick disease type C, severe early infantile neurologic onset, Niemann-Pick disease type C, adult neurologic onset, Niemann-Pick disease type C, juvenile neurologic onset, Senior-Loken syndrome, Renal-hepatic-pancreatic dysplasia, Progressive familial intrahepatic cholestasis type 5, Autosomal recessive polycystic kidney disease, Caroli disease, Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency, Citrullinemia type II, Chronic visceral acid sphingomyelinase deficiency, Infantile neurovisceral acid sphingomyelinase deficiency, Progressive familial intrahepatic cholestasis type 4, Transaldolase deficiency, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 2, Arthrogryposis, renal dysfunction, and cholestasis, Cerebrotendinous xanthomatosis 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
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