Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hemophilia B F9 Hemophilia B, Severe hemophilia B, Moderate hemophilia B, Mild hemophilia B, Bleeding disorder in hemophilia B carriers Centre de Génétique Médicale UCL
Hemophilia B F9 Hemophilia B, Severe hemophilia B, Moderate hemophilia B, Mild hemophilia B, Bleeding disorder in hemophilia B carriers Centrum Menselijke Erfelijkheid - KUL
Clouston syndrome GJB6 Hidrotic ectodermal dysplasia Centrum Medische Genetica - UZ Antwerpen
Ectodermal dysplasia GJB6 Hidrotic ectodermal dysplasia Centrum Medische Genetica - UZ Antwerpen
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
Enzymatic dosage Pompe disease Glycogen storage disease due to acid maltase deficiency, Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
Pompe disease, Glycogen storage disease II (GAA gene) GAA Glycogen storage disease due to acid maltase deficiency, infantile onset, Glycogen storage disease due to acid maltase deficiency, late-onset Centrum Medische Genetica - UZ Brussel VUB
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