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.
Early detection and management of patients with familial hypercholesterolemia (FH) reduces their risk of premature cardiovascular disease.
A range of assays are used for testing adults and children for rare or inherited diseases.
Rapid exome sequencing
The rapid trio whole exome sequencing service aims to provide a diagnosis for children with severe paediatric disorders for whom a diagnosis is required urgently.
Routine prenatal genetic testing and some disease-specific testing is delivered by the East GLH Laboratories at Cambridge, Nottingham and Leicester.
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.