We deliver genomic testing according to the National Genomic Test Directory for Rare and Inherited Disease (this includes inherited cancer).
Please take care to ensure the right tests are run for the right patients. Every test request received by our genomic laboratories should be appropriate, with patient eligibility checked and confirmed, using the correct test form completed with all relevant clinical information. Testing will not be activated without all of this in place. Please check the latest version of the National Genomic Test Directory to ensure your patient is eligible for testing.
Order a test
This section has all you need if you want to order a genomic test for rare and inherited disease.
Whole genome sequencing (rare disease)
Whole genome sequencing (WGS) is available for specific clinical indications in the Rare and Inherited Disease Test Directory through the national Genomic Medicine Service.
Rare Diseases - Urgent Testing
Information about Urgent and Semi-Rapid Rare Disease genomic testing
Prenatal testing
Prenatal genomic testing is delivered by the East GLH laboratories and by our partner GLHs across England.
R14 for acutely unwell children
The rapid trio sequencing service aims to provide a diagnosis for acutely unwell children.
Unexplained childhood death (R441) - Guidance for referrers
This page provides guidance to clinicians on the process for requesting genetic testing for unexplained death in infancy or sudden unexplained death in childhood. Test code R441.
R454 for treating symptomatic obstructive hypertrophic cardiomyopathy
Requests for R454 should be sent directly to SWGLH and not East Genomics
Familial Hypercholesterolaemia Information Zone
Early detection and management of patients with familial hypercholesterolemia (FH) reduces their risk of premature cardiovascular disease.