This page is designed to support healthcare professionals who are requesting genomic tests for rare disease.
How do I know which test to request?
The best place to check what test you need is the National Genomic Test Directory. These directories provide information on the most appropriate test for clinical indications, who is eligible for testing, who can request tests and which technology should be used for testing.
Where can I find forms, documents and guidance?
When you request a rare disease genetic test, you may or may not be aware that some of these tests are run using whole genome sequencing (WGS). If your test is run using WGS technology, you will need additional forms. You can determine whether a test is run through WGS or not by using the National Genomic Test Directory.
Please visit the pages below to access the appropriate forms and guidance.