Genetic tests

Full name Analytes Gene panels Disease Laboratory
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene) SCN4A Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis Centrum Medische Genetica - UZ Brussel VUB
Non-cholestatic jaundice with direct bilirubin (3 genes) ABCC2, SLCO1B1, SLCO1B3 Non-cholestatic jaundice with direct bilirubin (3 genes) - UCL Rotor syndrome, Dubin-Johnson syndrome Centre de Génétique Médicale UCL
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)
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