Genetic tests

Full name Analytes Gene panels Disease Laboratory
Polyarteritis nodosa, childhood-onset / Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome ADA2 Vasculitis due to ADA2 deficiency, Diamond-Blackfan anemia, Sneddon syndrome Centrum Menselijke Erfelijkheid - KUL
Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, adult form, Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form Centrum Medische Genetica - UZ Antwerpen
GM2-gangliosidosis / Tay-Sachs syndrome diagnostic (HEXA gene hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser)) HEXA Tay-Sachs disease, B variant, juvenile form, Tay-Sachs disease, B variant, infantile form, Tay-Sachs disease, B1 variant, Tay-Sachs disease, B variant, adult form Centrum Medische Genetica - UZ Brussel VUB
CYP2C9*2,*3 genotyping - drug metabolism - Pharmacogenetics CYP2C9 Vitamin K antagonists toxicity or dose selection, Oral antidiabetic drugs toxicity or dose selection Centre de Génétique Médicale UCL
Vitamin K antagonists toxicity or dose selection - VKORC1 genotyping (-1639G>A + 1173C>T) - Pharmacogenetics VKORC1 Vitamin K antagonists toxicity or dose selection, Prediction of toxicity or dose selection of vitamin K antagonists Centre de Génétique Médicale UCL
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
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