Rare and Inherited Disease genomic testing (including inherited cancer) is offered in accordance with the National Genomic Test Directory for Rare and Inherited Disease.
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.
Whole Genome Sequencing
For certain clinical indications, Whole Genome Sequencing (WGS) is available. This should be clear on the national test directory, or you can read more here.
Please see our page on WGS for rare diseases. There is a clear step by step guide to ordering these tests on this page. Please note, the relevant WGS referral form and WGS record of discussion form should be used for WGS tests (NOT those below) . These forms can be downloaded here.
Please use the appropriate referral form below, which is also listed on our referral form page.
Record of Discussion forms
Please ensure the correct Record of discussion form is used. It is important that the form for Whole Genome Sequencing is used, if that is the appropriate test.
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.