Molecular Diagnostics Centre

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The Haematology Molecular Diagnostics Centre (MDC) provides specialist genetic diagnostic services for both inherited disorders and haematological malignancies.

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.

Haemato-Oncology service provision contributes to the diagnosis of leukaemia and myeloproliferative disorder patients using molecular genetics to monitor treatment responses, detect early signs of relapse, and contribute to their risk stratification for therapy. These include the number of chemotherapy courses administered, molecular targeted therapies and various stem cell transplantation regimens.

Tests offered currently include screening and monitoring of genetic targets found in CML andAML, and identification of mutations found in myeloproliferative neoplasms.

Scientific and clinical advice

Advice on genetic investigation and interpretation of results in the above conditions is provided by clinical scientists based in the MDC. These are specialist north-west of England regional services.

Specific clinical advice, where required, is available from our team of Consultant Haematologists with specialisms in the range of disorders we analyse.


(Last reviewed October 2018)