Our new GEMINI clinical exome test is now available; it replaces many tests which are available across the UK, and adds significantly more diseases which can be tested for.   For further details please see the brochure and recent poster describing this test in the download section below. Please contact us if you would like to find out more or to discuss this exciting new test.

We are required by commissioners to gate-keep all requests for genetic testing - these are reviewed by staff from the Regional Medical Genetics Service.
The UK Genetic Testing Network (UKGTN) advises the NHS on genetic testing across the whole of the UK. It aims to ensure the provision of high quality, equitable genetic testing services by assessing whether providing a test as an NHS service is likely to be of benefit to patients. It recommends to NHS England that approved UKGTN tests are considered for funding by the Genetics Clinical Commissioning Group. Approved tests are listed on the UK Genetic Testing Network website.
Where possible, requests for UKGTN approved tests should be supported by evidence that the patient fulfils the relevant diagnostic or testing criteria using the forms available on the UK Genetic Testing Network website.
The following broad scheme is used to assess each non-routine test request. Additional relevant clinical information is always of value in helping the committee reach a decision.
Please note: urgent requests should be discussed with an on-call consultant.

  1. Clinically essential e.g. to be used in prenatal diagnosis, predictive testing.
  2. Clinically important and will alter management of patient or at-risk family members e.g. determine frequency and appropriateness of clinical surveillance.
  3. Clinically desirable but unlikely to alter management e.g. diagnostic test but no implications for screening or follow up.
  4. Non UKGTN test: will only be considered if in category 1 or 2 and options for their funding may need to be discussed with the referring department.
  5. Test not clinically indicated e.g. where clinical or biochemical testing is available.
  6. Test for research purposes only (please supply consent form and details of where the sample is to be sent). Please note any costs incurred are the responsibility of the requesting department.

Dr Stephen Abbs Director Genetics Laboratories stephen.abbs@addenbrookes.nhs.uk