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. Please see the Laboratory medicine page and UKAS Website for more details. The laboratory participates in external quality assessment schemes (e.g. GenQA, UKNEQAS, EMQN).

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 2020/21 National Genomic Test Directory for rare and inherited disorders and cancer can be accessed via the NHS England website.

Sample requirements

Update on Sample Requirements During COVID-19

We are unable to process any respiratory samples (eg Buccal swabs, Lung tissue), regardless of COVID-19 status of patient.

COVID Positive Patient

• Samples should not be taken from a COVID positive patient unless clinically urgent. In the case of a COVID-19 positive patient please wait 2 weeks before taking a sample.
• If a sample from a COVID19 positive patient is clinically urgent please ensure the form and sample are labelled with Danger of Infection Stickers and that ‘COVID-19’ is written on the request form.

 Patient Suspected to have COVID-19

• Samples should not be taken from a patient with suspected COVID-19 unless clinically urgent.
• If a sample from a patient suspected of having COVID-19 is clinically urgent please ensure the form and sample are labelled with Danger of Infection Stickers and that ‘Suspected COVID-19’ is written on the request form. A negative test may be required by the lab prior to processing being completed.

Patient Previously COVID-19 Positive

• Patients who have previously tested positive for COVID-19 can be tested as routine if >2 weeks has elapsed.
• There is no need to write this on the form or use danger of infection stickers.

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.

The latest quarterly audit presentation, based on overall reporting times for our specific service groups, is available below:

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.