Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hemophilia A F8 Hemophilia A, Severe hemophilia A, Moderate hemophilia A, Mild hemophilia A, Bleeding disorder in hemophilia A carriers Centre de Génétique Médicale UCL
Hemophilia A (inversions) F8 Severe hemophilia A, Bleeding disorder in hemophilia A carriers Centre de Génétique Médicale UCL
Hemophilia A F8 Hemophilia A, Mild hemophilia A, Severe hemophilia A, Moderate hemophilia A, Bleeding disorder in hemophilia A carriers Centrum Menselijke Erfelijkheid - KUL
Treacher Collins (gene panel) POLR1C, POLR1D, TCOF1 Treacher Collins (3 genes) - UZA Treacher-Collins syndrome Centrum Medische Genetica - UZ Antwerpen
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
Long chain 3-hydroxyl-CoA dehydrogenase deficiency (hot spot mutation - p.Glu510Gln) HADHA Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Centre de Génétique-Institut de Pathologie et de Génétique (IPG)