Heritable disorders

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Service provision for inherited disorders include mutation identification, carrier diagnosis and prenatal diagnosis in heritable bleeding disorders (haemophilias A and B, von Willebrand disease, coagulation FXI and FVII deficiencies) and in the haemoglobinopathies (thalassaemias and haemoglobin variants such as sickle cell anaemia).

The MDC also provides genetic risk factor screening in hereditary haemochromatosis (HH) and venous thrombosis (FV Leiden and prothrombin gene variant), and TPMT genotyping to inform the potential risk for adverse reactions to thiopurine drugs. The latter is provided jointly with the Department of Biochemistry at central site MFT, which provides phenotypic screening aspects of this service.

 

(Last reviewed October 2018)