National genomic test directory

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The National Genomic Test Directory specifies which genomic tests are commissioned by the NHS in England.

The National Genomic Test Directory sets out test eligibility criteria to provide guidance on which patients may benefit from genomic testing. Tests should only be requested where there is clear evidence that a result is highly likely to change clinical management of the patient or their family. Management includes determining clinical investigations; and/or therapeutic/treatment decisions or strategies; and/or enrolling in nationally approved surveillance programme; and/or informing and supporting reproductive choices.

The National Genomic Test Directory for rare and inherited disorders and cancer can be accessed below.

If you have any questions about the genomic testing available in your area, please contact your local genomic laboratory hub.

Document

National genomic test directory for rare and inherited disease

National genomic test directory for rare and inherited disease

  • Microsoft Excel
  • 174 KB

Summary

The national genomic test directory for rare and inherited diseases specifies the genomic tests commissioned by the NHS in England for rare and inherited disorders, the technology by which they are available, and the patients who will be eligible to access to a test.

Version 8.1, published 10 July 2025.

Document

Rare and inherited disease eligibility criteria

Rare and inherited disease eligibility criteria

  • PDF
  • 3 MB
  • 419 pages

Summary

This eligibility criteria document supplements the national genomic test directory by setting out which patients should be considered for testing under that indication, and the requesting specialties is a list of the clinical specialties who would be expected to request the test.

Version 8.1, published 10 July 2025.

Document

National genomic test directory for cancer

National genomic test directory for cancer

  • Microsoft Excel
  • 508 KB

Summary

The national genomic test directory for cancer specifies the genomic tests commissioned by the NHS in England for cancer, the technology by which they are available, and the patients who will be eligible to access to a test.

Version 13.1, published 10 July 2025.