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.
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.