Genetics

Molecular Diagnostics

The Molecular Diagnostics service is part of the Clinical Biochemistry Department within NMCPS and coordinates genetic testing across all sites — Royal Stoke University Hospital, County Hospital, Leighton Hospital, and Macclesfield Hospital.

Service provision and test pathways:

•    County Hospital – All genetic tests are sent to the Molecular Diagnostics section at Royal Stoke University Hospital.

•    Macclesfield & Leighton Hospitals:
o    Factor V Leiden and prothrombin c.20210G>A variants — sent to Royal Stoke University Hospital (in-house referral).
Genetic haemochromatosis (C282Y and H63D variants) — sent to St Mary’s Hospital, Manchester.
HLA-B27 — sent to Barnsley Blood Centre.

•    Royal Stoke University Hospital – Provides in-house testing for:
o    Thrombophilia risk factors (Factor V Leiden and prothrombin c.20210G>A variants)
Genetic haemochromatosis (C282Y and H63D variants)
HLA-B27

A range of other genetic analyses are available through external referral laboratories. Contact the laboratory before sending samples to confirm requirements.

For specialist molecular tests:

•    Use the dedicated molecular genetics request form.
•    Ensure all fields are completed, including confirmation of patient consent for testing.
•    Clearly indicate the test requested and provide relevant clinical information.
•    Please note that invoices for specialised tests will be forwarded to the requesting clinician or department.

This coordinated, multi-site service ensures that all NMCPS locations can access both local expertise at Royal Stoke and a trusted network of specialist referral centres, supporting timely and accurate genetic diagnosis.