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 technology by which they are available, and the patients who will be eligible to access to a test. 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
  • 171 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 7.1 published 2 Jan 2025.

Document

Rare and inherited disease eligibility criteria

Rare and inherited disease eligibility criteria

  • PDF
  • 3 MB
  • 412 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 7.1 published 2 Jan 2025.

Document

National genomic test directory for cancer

National genomic test directory for cancer

  • Microsoft Excel
  • 507 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 11 published January 2025.