Genetic tests

Full name Analytes Gene panels Disease Laboratory
Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val ) SERPINA1 Alpha-1-antitrypsin deficiency Centrum Menselijke Erfelijkheid - KUL
Alpha-1-antitrypsin deficiency (hot spot mutations - p.Glu342Lys (allele PI-Z), p. Glu264Val (allele PI-S)) SERPINA1 Alpha-1-antitrypsin deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Hypoparathyroidism sensorineural deafness and renal disease GATA3 Hypoparathyroidism-sensorineural deafness-renal disease syndrome Centre de Génétique Humaine - CHU Sart-Tilman
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
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centrum Menselijke Erfelijkheid - KUL
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centrum Medische Genetica - UZ Gent
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Centrum Medische Genetica - UZ Brussel VUB
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