Genetic tests

Full name Analytes Gene panels Disease Laboratory
Vascular malformations (somatic) AKT1, AKT2, AKT3, ALK, BRAF, GNA11, GNA14, GNAQ, HRAS, IDH1, IDH2, KRAS, NRAS, PIK3CA, PIK3R1, PIK3R2, PTEN, TEK, MAP3K3, MAP2K1 Vascular malformations (somatic) (19 genes) - UCL Capillary malformation-arteriovenous malformation, CLOVES syndrome, Maffucci syndrome, Proteus syndrome Centre de Génétique Médicale UCL
Candidiasis, familial 7 / Immunodeficiency 31A (AD) / Immunodefyciency 31B (AR) STAT1 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Susceptibility to viral and mycobacterial infections due to STAT1 deficiency, Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome Centrum Menselijke Erfelijkheid - KUL
Resistance to vitamin K antagonists - VKORC1 sequencing (all exons ) - Pharmacogenetics VKORC1 Resistance to vitamin K antagonists, Prediction of resistance to vitamin K antagonists Centre de Génétique Médicale UCL
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