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
Leri-Weill dyschondrosteosis / SHOX-related short stature SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centrum Medische Genetica - UZ Gent
Leri-Weill dyschondrosteosis / SHOX-related short stature SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leri-Weill dyschondrosteosis / SHOX-related short stature SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centrum Medische Genetica - UZ Antwerpen
Leri-Weill dyschondrosteosis / ISS SHOX Léri-Weill dyschondrosteosis, SHOX-related short stature Centre de Génétique Humaine - CHU Sart-Tilman
Small cell carcinoma of the ovary SMARCA4 Small cell carcinoma of the ovary Centrum Medische Genetica - UZ Gent
Rare non-epithelial ovarian neoplasms (2 genes) DICER1, SMARCA4 Small cell carcinoma of the ovary, Malignant Sertoli-Leydig cell tumor of the ovary, Maligant granulosa cell tumor of the ovary Centrum Menselijke Erfelijkheid - KUL
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
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