We deliver genomic testing according to the National Genomic Test Directory for Rare and Inherited Disease (this includes inherited cancer). Please click on the most appropriate link below for the information you need.
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.
R14 for acutely unwell children
The rapid trio sequencing service aims to provide a diagnosis for acutely unwell children.
Prenatal testing
Prenatal genomic testing is delivered by the East GLH laboratories and by our partner GLHs across England.
Familial Hypercholesterolaemia Information Zone
Early detection and management of patients with familial hypercholesterolemia (FH) reduces their risk of premature cardiovascular disease.
Rare Disease - Urgent Testing
Information about Urgent and Semi-Rapid Rare Disease genomic testing