Laboratory Genetics

The diagnostic laboratory provides a comprehensive genetics service for the whole of Wales, also offering specialist services which are accessed by clinicians worldwide. The laboratory has benefited from a close liaison with the research laboratories of the Medical Genetics Department and Cardiff University leading to the development of services that are now used routinely.
The laboratory provides a wide spectrum of services for all patients and their families in Wales including:
  • Confirmation or exclusion of diagnosis for an increasing number of genetic conditions and chromosome abnormalities
  • Prenatal testing where there is risk of abnormality or known familial conditions
  • Post-mortem testing for miscarriages or termination of pregnancy
  • Predictive testing where a family mutation is known
  • Carrier testing
  • Gene screening
  • Cytogenetic testing for leukaemia and related disorders
  • Stratified medicine to predict a patient’s likely response to certain drugs
Various techniques are used including karyotyping, rapid aneuploidy testing (QF-PCR), FISH, Sanger sequencing, array CGH, real time PCR, MLPA, pyrosequencing and next generation sequencing.
Tests that are not provided by the laboratory may be available via UKGTN. If the test you require is not listed 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 delivers a molecular genetics 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 our services, how to send a sample for testing and contact details. 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!

The UHB is committed to creating a fully inclusive and accessible service. This information is available in Welsh, Braille, large print or audio formats on request. By making equality and diversity an integral part of our business, it will enable us to enhance the services we deliver and better meet the needs of our patients and staff.

Last updated: 11/11/2013