Sheffield Diagnostic Genetics Service

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

The laboratory employs over 90 staff and has several on-going collaborations in research and education with partners in the public and private sector.

The Laboratory holds full CPA Accreditation, is a member of the UK Genetic Testing Network (UKGTN) and participates in external quality assessment schemes EMQN and UK NEQAS.

Direct-to-consumer testing

SDGS genetic testing should only be requested by a health care professional who takes full responsibility for counselling the patient, explaining why the test is being done, obtaining informed consent and feeding back the results afterwards. Labs should not knowingly accept samples for testing that come directly from a patient.

Predictive testing in children

SDGS will not accept samples from children for predictive testing for adult onset disorders, in line with international guidance.

Social sex selection

SDGS will not provide information about the sex of a pregnancy if they believe that the test is being done purely for social reasons and likely to lead to a termination of a pregnancy of the ‘wrong’ sex.


Any work undertaken must be done in accordance with UK/European legislation and professional guidelines.


Transactional website goes live offering specialist genetic testing


First tests to go live are Glycogen Storage Disease Next Generation Sequencing Panels: Liver, Metabolic Myopathies / Rhabdomyolysis & Wilson Disease. 

Keep a look out for more tests added soon!