Genetic tests

Full name Analytes Gene panels Disease Laboratory
Lymphoproliferative syndrome, X-linked (SH2D1A gene) / Duncan's disease SH2D1A X-linked lymphoproliferative disease, X-linked lymphoproliferative disease due to SH2D1A deficiency Centrum Menselijke Erfelijkheid - KUL
Lymphoproliferative syndrome, X-linked (XIAP gene) XIAP X-linked lymphoproliferative disease, X-linked lymphoproliferative disease due to XIAP deficiency Centrum Menselijke Erfelijkheid - KUL
Noonan syndrome (Screening PTPN11) PTPN11 Noonan syndrome, Noonan syndrome with multiple lentigines Centrum Menselijke Erfelijkheid - KUL
Cardiomyopathy: hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular non-compaction cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (gene panel) Cardiomyopathy (genepanel) - UZA Familial isolated dilated cardiomyopathy, Familial isolated restrictive cardiomyopathy, Left ventricular noncompaction, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Centrum Medische Genetica - UZ Antwerpen
Cardiomyopathy, hereditary (gene panel) Cardiomyopathy, hereditary (208 genes) - VUB Familial isolated arrhythmogenic ventricular dysplasia, biventricular form, Familial isolated arrhythmogenic ventricular dysplasia, left dominant form, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form, Familial isolated dilated cardiomyopathy, Familial isolated restrictive cardiomyopathy, Left ventricular noncompaction Centrum Medische Genetica - UZ Brussel VUB
Deafness, X-linked POU3F4 Rare mitochondrial non-syndromic sensorineural deafness, Xq21 microdeletion syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Maternally inherited deafness MT-TS1 Rare mitochondrial non-syndromic sensorineural deafness, MELAS Centrum Medische Genetica - UZ Brussel VUB
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