Genetic tests

Full name Analytes Gene panels Disease Laboratory
Saethre-Chotzen syndrome TWIST1 Saethre-Chotzen syndrome Centrum Medische Genetica - UZ Gent
Adrenoleukodystrophy, X-linked ABCD1 X-linked cerebral adrenoleukodystrophy Centre de Génétique Humaine - CHU Sart-Tilman
Lissencephaly / subcortical band heterotopia PAFAH1B1 Lissencephaly due to LIS1 mutation, Subcortical band heterotopia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly (LIS1 gene) PAFAH1B1 Lissencephaly due to LIS1 mutation 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
Creatine deficiency by Guanidinoacetate methyltransferase deficiency (2 genes) GAMT, GATM Guanidinoacetate methyltransferase deficiency, L-Arginine:glycine amidinotransferase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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