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 Test Directory is hosted on the NHS England website.
The Clinical Indications, tests available and eligibility criteria for patients are regularly updated. A major update to the Rare and Inherited Disease Test Directory is published each year in Spring. Minor updates are published throughout the year.
Please review this information and the NHSE published documents to ensure you are aware of any updates that may affect your practice.
Update 24th 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).
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.
Update 1st June 2023
| Clinical Indication ID | Clinical Indication |
|---|---|
| Clinical Indication ID R444 | Clinical Indication NICE approved PARP inhibitor treatment |
An additional Clinical Indication has been added to the Rare and Inherited Disease Test Directory to support NICE-approved PARP inhibitor treatment in breast and prostate cancer. The Rare and Inherited Disease eligibility criteria document has also been updated.
The R444 Clinical Indication code should be used for germline testing in patients not eligible for testing via R208 (breast) or R430 (prostate) testing.
Update 3rd April 2023
The main yearly update to the Rare and Inherited Disease Genomic Test Directory has been published. The list of new Clinical Indications and significant changes to the Rare and Inherited Disease Genomic Test Directory are listed below.
| Clinical Indication ID | Clinical Indication |
|---|---|
| Clinical Indication ID R442 | Clinical Indication Variant re-interpretation |
| Clinical Indication ID R430 | Clinical Indication Inherited prostate cancer |
| Clinical Indication ID R440 | Clinical Indication Hereditary isolated diabetes insipidus |
| Clinical Indication ID R438 | Clinical Indication Paediatric pseudo-obstruction syndrome |
| Clinical Indication ID R436 | Clinical Indication Hereditary alpha tryptasaemia |
| Clinical Indication ID R433 | Clinical Indication NIPD for Monogenic diabetes, subtype glucokinase |
| Clinical Indication ID R441 | Clinical Indication Unexplained death in infancy and sudden unexplained death in childhood (more details below) |
STR Test Codes
Some Neurology Clinical Indication STR test codes have been removed from the Test Directory. These STRs will be delivered using WGS. See correspondence sent in December 2022.
Semi-Rapid Clinical Indications
The Rare and Inherited Disease Genomic Test Directory includes four clinical indications delivered using trio whole genome sequencing (WGS) that in specific circumstances can be delivered as a Semi-rapid singleton whole exome virtual gene panel test. These four indications are listed in the table below.
| Clinical Indication ID | Clinical Indication |
|---|---|
| Clinical Indication ID R15 | Clinical Indication Primary immunodeficiency or monogenic inflammatory bowel disease |
| Clinical Indication ID R98 | Clinical Indication Likely inborn error of metabolism |
| Clinical Indication ID R135 | Clinical Indication Paediatric or syndromic cardiomyopathy |
| Clinical Indication ID R257 |
Clinical Indication
Unexplained young onset end-stage renal disease |
Please review this information and the NHSE published documents to ensure you are aware of any updates that may affect your practice.
If your patient is eligible for Semi-Rapid testing, you can find information regarding ordering testing in the document linked below.
Gene Panel updates
The Genomic Medicine Service (GMS) PanelApp has been updated to reflect new panel content and new Clinical Indications approved for use in the GMS.
GMS PanelApp does not include gene panels with only one or two genes. Ensure you check the Rare and Inherited Disease test Directory for common Clinical Indications associated with one or two genes.