Our Right Test, First Time guidance can help you to make the best use of our services, with particular information for familial hypercholesterolaemia (R134) requests.
Right Test, First Time - general guidance
Please see our Right Test, First Time page for full details.
To ensure maximum patient benefit from testing, please follow the points below when ordering testing:
- Check the latest version of the National Genomic Test Directory (NGTD) (opens in a new tab) to ensure your patient is eligible for testing. An expert team regularly update the NGTD so please always consult the latest version before placing an order.
- The Rare and Inherited Disease Test Directory has its own Eligibility Criteria which sets out which patients should be considered for testing under each indication.
- See our website for guidance on requesting genomic tests, sample requirements, and the correct forms to use. We have specific guidance for requesting Whole Genome Sequencing (WGS).
- Provide complete and accurate relevant clinical information that we will use to select the most appropriate and efficient test approach.
- Include the appropriate test code(s) from the NGTD to help us to process your requests more efficiently.
Support is available to help you to request the most appropriate testing for your patients.
Guidance for Familial Hypercholesterolaemia (FH) testing
Full guidance can be found on our FH ordering page.
Testing for FH is an area where particular care is needed when placing orders. These key points can help you when requesting testing:
- Clearly provide patient details and a complete and correct report to email, where results will be sent.
- Always consult the national genomic test directory (opens in a new tab) when placing an order. Eligibility criteria can change. We will make effort to notify you of changes when they happen and to outline them on our updates webpage.
- Include complete clinical details to show the patient is eligible for testing. This must include a Simon Broome (opens in a new tab) result that indicates at least possible FH, or an FH Wales (opens in a new tab) or Dutch Lipid test (opens in a new tab) score of 6 or more. Clinical information is necessary for our clinical scientists to interpret and report test results.
Detailed information on diagnostic or cascade testing is provided on the FH ordering page.