Genomic Testing for Rare and Inherited Disease
Genomic testing is being delivered according to the National Genomic Test Directories for Rare and Inherited Disease. Please use the Test Directory to identify the most appropriate test for your patient and add this information to the test referral form.
| National Genomic Test Directory for Rare and Inherited Disease | Rare and Inherited Disease Test Directory Eligibility Criteria |
| Order a Test | |
While the Test Directory aims to provide a comprehensive list of genomic tests, we acknowledge that rarer clinical indications or tests may not be listed. Please contact your Local Genomics Laboratory to get help identifying the appropriate test for your patient.
More Information
Use the links below to find out more information about the Rare and Inherited Disease Test Directory.
| Training Sessions – Rare and Inherited Disease |
| How to use PanelApp |
We are pleased to announce the launch of the NHS Genomic Medicine Service (GMS) Panels Resource , which offers a view of the 173 signed-off panels that relate to genomic tests listed in the NHS National Genomic Test Directory. This platform contains only ‘Green’ (diagnostic level of evidence) genes, STRs, and regions (CNVs) that have been approved for diagnostic testing in the NHS in England and is intended for use by NHS users and clinicians.
The main Genomics England PanelApp knowledgebase here will be dedicated for use by the wider scientific community for visualisation and reviewing of genes/genomic entities on virtual gene panels and will continue to be updated by Genomics England curators.
For more information on the evaluation and approval process of the content of GMS signed-off panels, please refer to the updating the NHS National Genomic Test Directory webpage.