Routine tests are normally performed in our laboratory.

Types of investigation

  • Confirmation/exclusion of a diagnosis.
  • Carrier testing and risk assessment in families with a known genetic disorder.
  • Presymptomatic testing in individuals at risk of a late-onset genetic disorder.
  • Prenatal diagnosis of genetic conditions.

For some of these disorders, the sample will be sent to another UK laboratory.

All test requests may be reviewed by the genetics service. The laboratory reserves the right not to test samples or send referrals to other laboratories.

Molecular studies:

For all our molecular tests, genes and disorders please visit GeneAdviser website:


Please note: If accessing the GeneAdviser website from a NHS networked computer you will see NHS prices;  if accessing via any other network you will see prices for non-NHS funded referrals, which are 50% higher than the NHS costs.