Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hemochromatosis hereditary type 2 to type 5 (5 genes) HAMP, FTH1, SLC40A1, TFR2, HJV Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL HJV or HAMP-related hemochromatosis, TFR2-related hemochromatosis, Hemochromatosis type 4, Hemochromatosis type 5 Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 4 (SLC40A1 gene) SLC40A1 Hemochromatosis type 4 Centre de Génétique Humaine - CHU Sart-Tilman
Lissencephaly, X-linked / subcortical band heterotopia DCX Lissencephaly type 1 due to doublecortin gene mutation, Subcortical band heterotopia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
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
Download XLSX
Download PDF