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Haemophilia and Thrombosis Genetics

Haemophilia genetics is a diagnostic specialty concerned with the molecular diagnosis of Haemophilia A, Haemophilia B, von Willebrand disease and other inherited bleeding disorders by DNA analysis.

The haemophilia genetics service offers:

• carrier testing and identification of Factor VIII mutations
• carrier testing and identification of Factor IX mutations
• prenatal diagnosis for haemophilia by DNA analysis.

Testing for a hereditary predisposition to thrombosis (thrombophilia) involves the coagulation laboratory measuring antithrombin, protein C and protein S and also genetic testing for Factor V Leiden and Prothrombin G20210A mutation.