East Genomics

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Rare disease directory update (Jan 2024)

The national genomic test directory specifies which genomic tests are commissioned by the NHS in England and the patients who are eligible to access to each test. The directory is regularly updated and clinicians should check the current version of the directory before referring patients.

Access the current edition of the directory (opens in a new tab) (opens in a new tab). Please review this information and the NHSE published documents to ensure you are aware of any updates that may affect your practice.

Updates to the directory are made once they are approved by the NHS and are summarised below. From the time of the update, it can take up to three months for significant changes and new tests to become fully available. This is due to the time it can take to develop, implement and verify new testing procedures.

January 2024

The following new clinical indications available for testing, and changes to Clinical Indication names, eligibility criteria and overlapping indications were added in January 2024:

Clinical Indication Test Code Clinical Indication
Clinical Indication Test Code R431 Clinical Indication R431 Genome-wide DNA Methylation Profiling to Aid Variant Interpretation

Some minor updates have also been made to Clinical Indication names, eligibility criteria and overlapping indications.

Updates to GMS PanelApp

To support healthcare professionals in finding the correct test for a patient, the gene content for single gene tests and small panel tests have been added to the GMS PanelApp resource (opens in a new tab).