Supporting Genomics England

Validation resource to support diagnostic laboratories

The 100,000 Genomes Project will identify variants in patients with rare diseases. Variants identified by Genomics England 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. This confirmation process will be performed on an aliquot of DNA which is retained by the RGC at the time of submission of a sample to the project.

Variants will be identified in two groups of genes with respect to testing as part of diagnostic services. The first group will be in genes for which services are already listed on the UKGTN web site. The second group of variants will be in genes for which there is currently no testing service in the UK. Variants in the first group can be confirmed in the UKGTN listed laboratory. Variants in the second group are available to download as an Excel spread sheet.

Laboratories that have developed a bespoke test to confirm a variant identified in a rare disease gene will be listed in the spread sheet following notification to the UKGTN. These variants may have been identified through research studies (including the Deciphering Developmental Delay project), exome sequencing diagnostic services or the 100,000 Genomes Project. In order to prevent unnecessary duplication of test development, laboratories listed can be contacted by other GMCs who have patients with variants in the same gene.

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. The spread sheet will be updated on a weekly basis.

PLEASE NOTE: This does not replace the UKGTN test evaluation process (commonly referred to as the Gene Dossier process) for the development of a clinical diagnostic testing service for NHS provision. It is intended for confirmation of variants from the 100,000 Genomes Project only.