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Oxford University Hospitals NHS Foundation Trust

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Molecular Genetics Laboratory

The Molecular Genetics Laboratory ('DNA Lab') provides a molecular genetic testing facility for a wide range of routine and specialised investigations. Please refer to the A-Z index of current disease services for further details.

A list of Current Disease Services including prices and turnaround times is available to download here (pdf)

The laboratory provides the regional diagnostic service for a number of 'core' single gene disorders, including cystic fibrosis, fragile X syndrome, Huntington disease and familial cancer syndromes.

It also provides both national and international services for the congenital myasthenic syndromes, craniofacial syndromes and mitochondrial disorders (all funded through National Commissioning Group (NCG)) and for skeletal dysplasias.

The Molecular Genetics Laboratory is a member of the UK Genetic Testing network, and as appropriate, will forward patient samples for additional specialist tests to other UK laboratories. Full details of services available through UKGTN are available at and the Association for Clinical Genetic Science website

Details of services for rare disorders currently not available within the UK can be found at the following websites:

The Oxford Molecular Genetics Laboratory is part of the SCOBEC consortium, working in collaboration with Regional Genetics Laboratories in Salisbury, Cambridge, Bristol, Exeter and Cardiff to provide an efficient service across the consortium (SCOBEC).

The laboratory participates in the UK National (UKNEQAS) and European Molecular Genetics Quality Network (EMQN) External Quality Assessment schemes.

Research and development

The DNA Lab has a number of research collaborations mainly involved in translating research into clinical practice. These include:

  • NIHR Biomedical Research Centre (OxfordBRC) - a partnership between Oxford University Hospitals and the University of Oxford - for sudden cardiac death syndrome and retinal degeneration
  • Weatherall Institute of Molecular Medicine (WIMM) - congenital myasthenic syndromes, craniofacial syndromes and skeletal dysplasias
  • Nuffield Department of Obstetrics and Gynaecology (NDOG), OUH - mitochondrial disorders
  • Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM) - endocrine disorders.

Laboratory links

Contact details for the laboratory can be found on our Home Page

Last updated 18 October 2017 by Claire Scott