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
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
Venous malformation (3 genes) TEK, GLMN Venous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Blue rubber bleb nevus, Mucocutaneous venous malformations, Glomuvenous malformation, Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Juvenile polyposis of infancy, Proteus syndrome, Proteus-like syndrome, Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Centre de Génétique Médicale UCL
Epidermolysis bullosa (gene panel) Epidermolysis bullosa and bladder diseases (60 genes) - KUL Inherited epidermolysis bullosa Centrum Menselijke Erfelijkheid - KUL
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