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 2025
The latest updates to the Rare and Inherited Disease Genomic Test Directory (opens in a new tab) includes notable changes relevant to cardiology, developmental disorders, neurology and inherited cancers. The significant changes are:
- Addition of R454 CYP2C19 testing for Mavacamten prescribing (Samples to be sent to the South West GLH, Bristol Lab)
- Changes to eligibility criteria for R27, R28, R56, R58 (dementia), R137 and R297 (recurrent miscarriages)
- Amendments to criteria for inherited cancers for deceased affected individuals in tests R210, R211, R367 and clarification of R207, R211, R212, R213, R214, R215, R216, R219, R220, R358, R359, R225, R254, R422, R363, R364 and R365
- GPs can now request R176 for Gilbert syndrome
- Removal of R53 (Fragile X)
- Removal of array tests where whole genome sequencing is available R59.2, R69.3, R83.2, R84.2, R86.2, R87.2, R88.2, R89.2 and R100.2
Additional minor changes including clarification of R15, R29, R69, R131, R224, R367, R377, R414 and R430.
Details are summarised in the tables below and fully detailed in the attached file.
Find out more about changes to developmental disorder testing, including removal of R53.
| Specialism | Clinical Indication ID | Clinical Indication |
|---|---|---|
| Specialism Cardiology | Clinical Indication ID R454 | Clinical Indication Mavacamten for treating symptomatic obstructive hypertrophic cardiomyopathy |
| Specialism | Clinical Indication ID | Clinical Indication | Change |
|---|---|---|---|
| Specialism Developmental disorders | Clinical Indication ID R27 | Clinical Indication Paediatric disorders | Change Amended criteria to clarify when to request this testing. Addition of option to request this test for eligible patients with intellectual disability/developmental delay instead of using R29, to reduce reanalysis requests. Also addition of new exclusion criteria. |
| Specialism Developmental disorders | Clinical Indication ID R28 | Clinical Indication Congenital malformation and dysmorphism syndromes – microarray only | Change Clinical features should be highly suggestive of a chromosomal cause and, where possible, to include the specific chromosomal disorder suspected on the request form. |
| Specialism Neurology | Clinical Indication ID R56 | Clinical Indication Adult onset dystonia, chorea or related movement disorder |
Change
Testing criteria updated to include any one of the following: 1. Unexplained isolated dystonia, chorea or related movement disorder with onset before age of 30, or familial2. Unexplained complex dystonia, chorea or related movement disorder with onset before age of 45, or familial3. HD-like (regardless of age or dystonia type), following a negative R68 HD test |
| Specialism Neurology | Clinical Indication ID R58 | Clinical Indication Adult onset neurodegenerative disorder |
Change
Updated testing criteria linked to unexplained dementia. Acquired causes must have been excluded. Testing can be offered in cases where close relatives have MND/ALS, where neurological features suggest a monogenic cause, or where family history is highly suggestive of a monogenic cause. |
| Specialism Cardiology | Clinical Indication ID R137 | Clinical Indication Congenital heart disease - microarray | Change Added exclusion criteria for certain non-syndromic congenital heart disease. |
| Specialism Mosaic & structural chromosomal disorders | Clinical Indication ID R297 | Clinical Indication Possible structural chromosomal rearrangement -– karyotype or targeted chromosomal analysis | Change Change of testing criteria for recurrent miscarriage. |
| Specialism Inherited cancer | Clinical Indication ID R210 |
Clinical Indication
Inherited MMR deficiency (Lynch syndrome) |
Change Amendment to criteria for deceased affected individuals. Added types of lynch cancers: urothelial cancers, upper gastrointestinal cancer. |
| Specialism Inherited cancer | Clinical Indication ID R211 |
Clinical Indication
Inherited polyposis and early onset colorectal cancer - germline test |
Change Amendment to criteria for deceased affected individuals. |
| Specialism Inherited cancer | Clinical Indication ID R224 | Clinical Indication Inherited renal cancer | Change Amendments to criteria including increased proband age limits. Amendments for deceased affected individuals. |
| Specialism Inherited cancer | Clinical Indication ID R414 |
Clinical Indication
APC Associated polyposis |
Change Amendment to criteria to include people of any age that meet GAPP criteria. Amendments in the criteria for deceased affected individuals. |
| Specialism Inherited cancer | Clinical Indication ID R367 |
Clinical Indication
Inherited pancreatic cancer |
Change Amendment to criteria: Two or more relatives with breast cancer age <60, melanoma age <60, OR ovarian cancer OR two or more with pancreatic cancer (any age). Amendment to criteria for deceased affected individuals. |
| Specialism Inherited cancer | Clinical Indication ID R430 |
Clinical Indication
Inherited prostate cancer |
Change Amendments to criteria and addition of R207 to overlapping Clinical Indications. |
| Specialism Inherited cancer | Clinical Indication ID R207, R211, R212,R213, R214, R215, R216, R219, R220, R358, R359, R225, R254, R422, R363, R364, R365. | Clinical Indication Various | Change Updated the criteria for deceased affected individuals. |