Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes) SMARCB1, SMARCA4 Rhabdoid tumor predisposition syndrome Centrum Menselijke Erfelijkheid - KUL
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
Glycogen storage disease type 0 GYS2 Glycogen storage disease due to hepatic glycogen synthase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Deficiency of Vitamin K-Dependent Clotting Factors VKORC1, GGCX Hereditary combined deficiency of vitamin K-dependent clotting factors Centrum Medische Genetica - UZ Gent
Pseudoxanthoma Elasticum with clotting deficiency GGCX Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Hereditary combined deficiency of vitamin K-dependent clotting factors Centrum Medische Genetica - UZ Gent
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