Genetic tests

Full name Analytes Gene panels Disease Laboratory
Gorlin syndrome (gene panel) PTCH1, PTCH2, SUFU Gorlin syndrome (3 genes) Gorlin syndrome Centre de Génétique Médicale UCL
Medulloblastoma (gene panel) SUFU, TP53, PTCH1 Medulloblastoma (3 genes) - KUL Medulloblastoma Centrum Menselijke Erfelijkheid - KUL
Medulloblastoma (3 genes) PTCH1, PTCH2, SUFU Medulloblastoma (3 genes) - UCL Medulloblastoma , Gorlin syndrome Centre de Génétique Médicale UCL
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
MTHFR c.677C>T et c.1298A>C -drug metabolism - Pharmacogenetics MTHFR Centre de Génétique Médicale UCL
Homocystinuria (hot spot mutation - c.677C>T) MTHFR Homocystinuria due to methylene tetrahydrofolate reductase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Homocystinuria (hot spot mutation - c.1298A>C) MTHFR Homocystinuria due to methylene tetrahydrofolate reductase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Cerebral cavernous malformation (gene panel) KRIT1, CCM2, PDCD10 Cerebral cavernous malformation (3 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Familial cerebral cavernous malformation Centre de Génétique Médicale UCL
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