Molecular Genetics

The molecular laboratory service provides genetic diagnosis for those families suffering from inherited conditions caused by mutation of specific single genes.  Testing is performed using a variety of DNA analysis techniques to identify causative mutations or to track defective genes through families.

The Molecular Genetics Laboratory operates within the Professional Guidelines of the Clinical Molecular Genetics Society (CMGS) 

The laboratory is accredited by Clinical Pathology Accreditation

Clinical scientists and MLSO staff are State Registered with the Health Professions Council after the required period of training.

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The Molecular Genetics Laboratory participates in the following external quality assurance schemes:

• UK NEQAS for Molecular Genetics (including blood spot testing for CF and MCADD)
• European Molecular Quality Network (EMQN)
• UK NEQAS for Histocompatibility and Immunogenetics (HFE genotyping)
• UK NEQAS for Blood Coagulation (haemophilia genetic analysis)
• UK NEQAS for Leucocyte Immunophenotyping (Post-SCT chimaerism monitoring)

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