Sheffield Diagnostic Genetics Service

Genetics lab

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

The Laboratory holds full UKAS Accreditation (lab no. 8652) to ISO15189:2012 international standard and participates in external quality assessment schemes UK NEQAS and 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.

Yorkshire and North East Genomic Laboratory Hub

In response to NHS England’s recent 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 Yorkshire and North East Genomic Laboratory Hub (Y&E GLH); an exciting collaboration to provide services for Genomics across Yorkshire and Humber and the North.

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 Y&E GLH. We will issue further information about the future genomic testing arrangements as it becomes available.

NHS England are currently producing the National Genomic Test Directory that will specify 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 final draft 2018/2019 National Genomic Test Directory for rare and inherited disorders and cancer can be accessed via the NHS England website.

Haemochromatosis testing for Yorkshire and Humber and the North

As a result of this change, the laboratory work and reporting for haemochromatosis will be consolidated in the region and delivered by the Sheffield laboratory. This will not affect current referral pathways or turnaround times for these referrals. However referrals to the Newcastle and Leeds laboratories will be forwarded to Sheffield and all results will be issued by the Sheffield Laboratory.

There are currently no changes to the sample requirements, the referral criteria or the laboratory you send samples to for haemochromatosis; the respective laboratories will re-route samples appropriately. Your results will be on a Sheffield report but the content will be in a similar format to the reports from your current reporting laboratory. Examples of the Sheffield reports are shown below:

You will be kept informed of any additional changes through further letters, and updates to the information available via our website.

It is planned that this change in service delivery will take place on 7th January 2019, after which all referrals received will be reported by the Sheffield laboratory.

If you require any further information on this matter please contact the laboratory.

Reporting times

Our reporting times are based on the recommendations of the Association for Clinical Genetic Science or on specific Service Level Agreements.

Quarterly audit presentations, based on overall reporting times for our specific service groups, are available to download below:

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.

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Sheffield Children’s NHS Foundation Trust
Sheffield Children's@SheffChildrens
RT @SallySnowden: What a happy bunch. It’s going to be a good two years! Welcome to the new cohort of TNAs @ShefSNM @nmcnews @SheffChildren

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