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:
• 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:
• 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.