Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hemophilia B F9 Hemophilia B, Severe hemophilia B, Moderate hemophilia B, Mild hemophilia B, Bleeding disorder in hemophilia B carriers Centre de Génétique Médicale UCL
Hemophilia B F9 Hemophilia B, Severe hemophilia B, Moderate hemophilia B, Mild hemophilia B, Bleeding disorder in hemophilia B carriers Centrum Menselijke Erfelijkheid - KUL
Malformations of cortical development (235 genes) Malformations of cortical development (235 genes) - VUB Bilateral perisylvian polymicrogyria, Cobblestone lissencephaly without muscular or ocular involvement, Lissencephaly due to LIS1 mutation, Lissencephaly due to TUBA1A mutation, Lissencephaly syndrome, Norman-Roberts type, Lissencephaly type 1 due to doublecortin gene mutation, Microlissencephaly, Polymicrogyria due to TUBB2B mutation, Subcortical band heterotopia, X-linked lissencephaly with abnormal genitalia Centrum Medische Genetica - UZ Brussel VUB
Vitelliform Macular Dystrophy BEST1, PRPH2, IMPG1, IMPG2 Best vitelliform macular dystrophy, Adult-onset foveomacular vitelliform dystrophy Centrum Medische Genetica - UZ Gent
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
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