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National Genomic Test Directory

The National Genomic Test Directory specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access to a test.

The National Genomic Test Directory is hosted on the NHS England website

Included is the:

  • National Genomic Test Directory for Rare and Inherited Disease
  • Rare and Inherited Disease Eligibility Criteria
  • National Genomic Test Directory for Cancer

On 21 April 2022, the latest updates to the National Genomics Test Directory were made live on the NHS England website.

The updates include new clinical indications and amended tests on both the Rare and Inherited Disease Test Directory and eligibility criteria, as well as the Cancer Directory.

Gene content has been updated for a number of tests that screen for genetic variants and Copy Number Variations (CNVs) in gene panels using next generation sequencing. The Genomics England PanelApp webpage and the Genomic Medicine Service Gene Panel webpage will be updated to reflect these changes over the next few weeks.

The expectation is that each GLH will work to deliver the updated test directory within three months of publication. Thank you in advance for your patience with the Genomic Medicine Service as these updates are made operational across the country.