The diagnostic laboratory was established in 1985, and has since functioned as a regional laboratory providing a genetic diagnostic service for the whole of Wales. The laboratory has benefited from a close liaison with the research laboratories of the Medical Genetics Department who were intimately involved in cloning the myotonic dystrophy and huntington gene for which diagnostic tests and family follow up is now routine.
Today, in a modern environment, the laboratory provides a comprehensive service for all patients and their families in Wales for a continuously increasing number of genetic conditions. It also offers specialist diagnostic services which are accessed by geneticists worldwide. Using a variety of molecular techniques, the laboratory provides confirmation or exclusion of diagnosis, prenatal, predictive, carrier testing and gene screening analysis.
An additional specialist service provided is pharmacogenetics, the study of the relationship between individual gene variants and variable drug effects. In particular, the laboratory offers genetic testing to predict on individual patient’s response to drugs used to treat certain cancers.
Tests that are not provided by the laboratory may be available via UKGTN. If the test you require is not in this list please contact the laboratory for further details.
The service has been accredited by CPA (UK) Ltd, and participates in external quality assessment schemes, UK NEQAS and EMQN. The laboratory is a member of the SCOBEC consortium (Salisbury, Cambridge, Oxford, Bristol, Exeter and Cardiff), which will be delivering a service to approximately 26% of the combined population of England and Wales.
This site is to be treated as an information guide only. There is useful information about what services are provided, what is needed when sending a sample for testing and contact details for laboratory queries. It is designed to be a useful tool for referring clinicians and clinical scientists, whilst providing members of the general public with some basic information about genetic disorders and testing. Any suggestions on how we can improve this website are welcome!