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.
July 2023
| Clinical Indication Test code | Clinical Indication |
|---|---|
| Clinical Indication Test code R54.4 |
Clinical Indication
Hereditary ataxia with onset in adulthood - RFC1 STR |
| Clinical Indication Test code R78.5 | Clinical Indication Hereditary neuropathy or pain disorder - RFC1 STR |
The latest version of the Genomic Medicine Service Rare Diseases Test Directory includes the addition of a diagnostic test for the RFC1 expansion that causes CANVAS (OMIM #614575 (opens in a new tab)).
The RFC1 expansion testing has been added as an option when requesting the whole genome sequencing (WGS) tests for R54 - Hereditary ataxia with onset in adulthood and R78 - Hereditary neuropathy or pain disorder.
The RFC1 expansion is NOT currently detected as part of WGS analysis, therefore this test is offered as a stand-alone PCR-based test but ONLY when it is specifically requested as part of a referral for the above panels. RFC1 expansion reports will be issued separately to the WGS panel reports.
If RFC1 testing is required as part of a request for R54.3 / R78.4, please be sure to state this clearly on the test order form.