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
Highly Specialised Services (HSS)) and for skeletal dysplasias.
Details of services for rare disorders currently not available within the UK can be found at the following websites:
The laboratory participates in the UK National (GenQA) 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:
- Oxford NIHR Biomedical Research Centre (OxfordBRC) - a partnership between Oxford University Hospitals NHS Foundation Trust 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
15 October 2018
by Claire Scott