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 will 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.
All other rare disease tests
For rare disease genomic tests that do not use whole genome sequencing (WGS), please use this page for forms and guidance.
Find out moreWhole Genome Sequencing
Whole genome sequencing (WGS) refers to DNA sequencing of the entire genome, including both coding and non-coding regions. If your test is run using WGS technology, you will need additional forms.
Find out moreRapid Whole Genome Sequencing testing (R14 Service)
If you are requesting a rapid whole genome sequencing test for an acutely unwell baby or child suspected to have a monogenic disorder, where rapid testing is required to guide immediate clinical management, please use the R14 service.
Find out moreHepatocyte Nuclear Factor-1 Beta - HNF1B
Information for patients with a disease-causing variant in the Hepatocyte Nuclear Factor-1 Beta (HNF1B) gene.
Find out more