The Molecular Haematology section provides specialist genomic diagnostic services for both inherited disorders and haematological malignancies.
We offer mutation identification, carrier diagnosis and prenatal diagnosis where indicated in heritable bleeding disorders (including haemophilias A and B, von Willebrand disease, coagulation factor deficiencies) and in the haemoglobinopathies (thalassaemias and haemoglobin variants such as sickle cell anaemia).
We also provide 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 the Oxford Road Campus (ORC), MFT, which provides phenotypic screening aspects of this service.
The service is currently expanding its repertoire, in line with the NHS E Genomic Test Directory and details will be updated as this is introduced.