Genetic tests

Full name Analytes Gene panels Disease Laboratory
X-linked hydrocephalia / CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndrome (L1CAM gene) L1CAM Hydrocephalus with stenosis of the aqueduct of Sylvius Centrum Medische Genetica - UZ Brussel VUB
Cataract, juvenile with microcornea and glucosuria SLC16A12 Juvenile cataract-microcornea-renal glucosuria syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Spondylo-epiphyseal dysplasia NKX3-2, COL2A1 Centrum Medische Genetica - UZ Gent
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