Rare and Inherited Disease genomic testing (including inherited cancer) is offered in accordance with the National Genomic Test Directory for Rare and Inherited Disease.
Note: If you know which test you need, and how to order it, you can go directly to our test order page.
The National Genomic Test Directory for Rare and Inherited Disease is available online for you to identify the most appropriate test for your patient. This information should be added to your test referral form.
A document outlining the eligibility criteria supplements the directory; it lists the clinical specialties that would be expected to request for a given clinical indication and sets out which patients should be considered for testing under that indication.
An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place prior to testing. A record of this discussion must be retained within the patient record when a genomic test is ordered. Find more information, including details of the East GLH Patient Choice Consent Framework online training program.
Please refer to the relevant pages for further information on sample requirements and transport of samples.
For certain clinical indications, Whole Genome Sequencing (WGS) is available. Please refer to our page on WGS for rare diseases.
Test order forms
The test order form and record of discussion form to use for the bulk of our rare disease tests can be found here.
If you wish to order a whole genome sequencing (WGS) test, these forms can be downloaded here.
The National Genomic Rare and Inherited Disease Test Directory indicates that gene panels are the appropriate test for many clinical indications. The gene panels approved for use within the Genomic Medicine Service (GMS) are listed in PanelApp.
PanelApp allows gene panels to be shared, downloaded, viewed and curated by the scientific and clinical community.
To determine which genes are on the gene panel for a test associated with a clinical indication you can go to the PanelApp website and information in the document below.