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
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
Prostate cancer susceptibility (HOXB13 - hot spot mutation p.(Gly84Glu)) HOXB13 Familial prostate cancer Centre de Génétique Humaine - CHU Sart-Tilman
Prostate cancer HOXB13 Familial prostate cancer Centre de Génétique Médicale UCL
Generalized Arterial Calcification of Infancy ENPP1, ABCC6 Generalized arterial calcification of infancy Centrum Medische Genetica - UZ Gent
Vascular mineralisation ANKH, NT5E, ENPP1 Centrum Medische Genetica - UZ Gent