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 2024
The National Genomic Test Directory for Rare and Inherited Disease has been updated.
New tests have been added and tests amended – listed below. Changes have also been made to individual Clinical Indication eligibility criteria. The full change log is provided as a table in the back of the Rare and Inherited Disease eligibility criteria PDF document.
Please review the following information, alongside the published Test Directory documents, to ensure you are aware of any updates that may affect your practice.
The changes to the Rare and Inherited Disease Test Directory will be implemented across the Genomic Medicine Service laboratories over the next 3 months.
| Clinical Indication ID | Clinical Indication |
|---|---|
| Clinical Indication ID R446 | Clinical Indication APOL1 kidney donor testing |
| Clinical Indication ID R452 |
Clinical Indication
Silver Russell Syndrome and Temple Syndrome (Replaces R147 Growth failure in early childhood) |
| Clinical Indication ID R453 |
Clinical Indication
Monogenic short stature (Replaces R147 Growth failure in early childhood) |
| Clinical Indication ID R449, R451, R450 | Clinical Indication New Clinical Indications for diagnostic testing of metabolic genes. |
| Clinical Indication ID | Clinical Indication | Change |
|---|---|---|
| Clinical Indication ID R444.1 | Clinical Indication NICE approved PARP inhibitor treatment |
Change
Eligibility expanded to include testing for individuals with HER2-negative breast cancer for access to Talazoparib. |
| Clinical Indication ID R444.1 | Clinical Indication NICE approved PARP inhibitor treatment |
Change
Testing for BRCA1 and BRCA2 genes only. Recommendation to request R208 - Inherited breast cancer and ovarian cancer, where patients are eligible, to receive full gene panel testing. |
| Clinical Indication ID R147 | Clinical Indication Growth failure in early childhood |
Change
Removal of R147 Clinical Indication. Replaced with R452 Silver Russell Syndrome and Temple Syndrome and R453 Monogenic short stature |
| Clinical Indication ID R195 | Clinical Indication Proteinuric renal disease |
Change
Clinical Indication moved to WGS with immediate effect |
| Clinical Indication ID R65 |
Clinical Indication
Aminoglycoside exposure posing risk to hearing |
Change
Three MT-RNR1 variants will now be tested for this clinical indication: m.1555A>G m.1095T>C m.1494C>T |
| Clinical Indication ID R351 | Clinical Indication NARP syndrome or maternally inherited Leigh syndrome | Change Removal of MT-ND6 target from R351.1 |
| Clinical Indication ID R239 | Clinical Indication Incontinentia pigmenti | Change Addition of a test type for testing common IKBKG deletion. |
|
Clinical Indication ID
R27 R29 |
Clinical Indication
Paediatric disorders, Intellectual disability |
Change
Removal of array test type for these WGS clinical indications. R377 Intellectual disability - microarray only, can be used if indicated. |
|
Clinical Indication ID
R69 R59 R83 R84 R86 R87 R88 R89 |
Clinical Indication
Hypotonic infant, Early onset or syndromic epilepsy, Arthrogryposis, Cerebellar anomalies, Hydrocephalus, Cerebral malformation, Severe microcephaly, Ultra-rare and atypical monogenic disorders |
Change
Text added to eligibility criteria “It is not a requirement to perform microarray testing in addition to WGS but microarray testing can be performed where appropriate”. For these WGS tests, a parallel microarray will not be routinely performed unless clinically indicated and/or requested on the test order form. |
Copy Number Variation test codes
Copy Number Variant (CNVs) test codes for most gene panel Clinical Indications have been merged with the gene panel test code. Where possible, CNVs will now be routinely delivered via next generation sequencing (NGS) for these tests. Where CNV detection is not possible within genes known to have disease causing CNVs (e.g. due to homology with pseudogenes), alternative methods will be used to identify CNVs (eg. R210.6 PMS2 MLPA will be run for R210 - Inherited MMR deficiency patients).
Gene Panel Content
Updates have also been made to gene panel content. Please use the NHS GMS Panel Resource (opens in a new tab) to view current gene panel content.