Confirmation of Variants

Variant confirmation resource to support diagnostic laboratories

Member laboratories as part of routine service confirm variants either from diagnostic or research testing. For example, the 100,000 Genomes Project will identify variants in patients with rare diseases. These will be fed back to the referring Genomic Medicine Centres (GMCs) and the requirement of the study is that Regional Genetics Centres (RGC) will confirm the variants so that they can be reported to patients.

In order to prevent unnecessary duplication of test development, a list containing information from laboratories that have developed tests to confirm specific variants identified through research studies (including the Deciphering Developmental Delay project), NHS diagnostic services or the 100,000 Genomes Project is available here.

Laboratories that have developed a bespoke test to confirm these variants are able to add these to the list following notification to the UKGTN. Laboratories wishing to have a specific variant confirmed should contact the listed laboratory directly for testing information. A fully interpretative report will be issued by the testing laboratory and therefore the necessary clinical information will need to be sent with the DNA sample.

PLEASE NOTE: This does not replace the UKGTN database of NHS genetic test services for clinical conditions or the test evaluation process (commonly referred to as the Gene Dossier process) for the development of such a clinical diagnostic testing service for NHS provision.

To notify the UKGTN of new listings, laboratories should complete the new variants spread sheet.

This should be sent to and and copied to Once reviewed the details will be uploaded on to the web site, on a weekly basis.