Genetic tests

Full name Analytes Gene panels Disease Laboratory
Von Willebrand disease VWF Von Willebrand disease type 1, Von Willebrand disease type 2A, Von Willebrand disease type 2M, Von Willebrand disease type 2B, Von Willebrand disease type 2N, Von Willebrand disease type 3 Centrum Medische Genetica - UZ Antwerpen
Vitelliform Macular Dystrophy BEST1, PRPH2, IMPG1, IMPG2 Best vitelliform macular dystrophy, Adult-onset foveomacular vitelliform dystrophy Centrum Medische Genetica - UZ Gent
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
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
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