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.
May 2025
The latest changes and clarifications to the rare & inherited disease test directory are summarised below. We aim to implement these changes as quickly as possible.
- Simplification of sickle cell testing for patients and carriers (R93, R94, R361, R362) – R94 for HbS sickle cell anaemia has been retired. HbS has been added as a target to R93 allowing this to be used instead. Similarly, R362 for sickle cell carriers has been integrated into R361.
- Clarification of chromosomal tests R297, R314, R265, R402 – targeted chromosome analysis (TCA)/karyotype methods will be applied as appropriate with TCA possibly producing reportable incidental findings.
- Clarification of monogenic disorder testing for acutely unwell children (R14) – this test does not detect myotonic dystrophy, spinal muscular atrophy and Prader Willi syndromes caused by imprinting defect, which must be requested separately where appropriate.
- Exclusion criteria changes to non-invasive prenatal diagnosis tests R310, R425, R250 and R304 for consanguineous families.
Additionally, minor operational changes have been made to tests for cerebellar anomalies (R84), Bardet Biedl syndrome (R107), hypogonadotropic hypogonadism (R148), mitochondrial disorder (R356) and skeletal dysplasia (R104).
| 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. |