Sheffield Diagnostic Genetics Service

Sheffield Diagnostic Genetics Service (SDGS) includes both cytogenetic and molecular genetic disciplines. We deliver first-class genomic analysis services to the UK and internationally for a wide variety of inherited and acquired genetic disorders.

SDGS is a UKAS accredited medical laboratory No 8652. A full list of accredited tests provided by our laboratory is detailed in our Schedule of Accreditation – this can be viewed on the UKAS website. Some tests provided by our laboratory are not included within the Schedule of Accreditation. These tests are managed within the Laboratory Quality Management System. If further information or clarification regarding tests within the Schedule of Accreditation is required please contact the laboratory. The laboratory participates in external quality assessment schemes (e.g. GenQA, UKNEQAS, EMQN).

For further information, advice, and interpretation contact the relevant Head of Section or the Head of Laboratory as detailed.

Please note that Clinical Genetics is a separate area of genetics at the hospital which helps diagnose conditions and supports patients and families with one to one consultations.

North East and Yorkshire Genomic Laboratory Hub

In response to NHS England’s Strategy and Service Specification for the future of Genomics services in England, Newcastle Teaching Hospitals, Leeds Teaching Hospitals, Sheffield Children’s Trust, Sheffield Teaching Hospitals and NewGene have come together as the North East and Yorkshire Genomic Laboratory Hub (NEYGLH); an exciting collaboration to provide services for Genomics across the region.

The Sheffield Diagnostic Genetics Service will continue to receive samples, perform genomic tests and dispatch DNA samples for specialist testing to the appropriate laboratory, as part of NEYGLH.

NHSE National Genomic Test Directory

The NHS England National Genomic Test Directory specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access a test. The current version of the National Genomic Test Directory for rare and inherited disorders and cancer can be accessed via the NHS England website.

Reporting times

Our reporting times are based on the recommendations of NHS England and the Association for Clinical Genomic Science or on specific Service Level Agreements.

Private/Non-NHSE work

If you require tests which fall outside of NHSE work please contact the lab to discuss.

Give us feedback

We welcome your feedback. If you have any comments, suggestions, concerns or compliments regarding the service that you receive from our laboratory, please let us know.