R14 Rapid Exome Sequencing for acutely unwell children with a likely monogenic disorder
The NHS R14 rapid trio “whole” exome sequencing service aims to provide a diagnosis for children with severe paediatric disorders for whom a diagnosis is required more urgently to aid clinical management, prenatal testing or pre-implantation genetic diagnosis.
At this time, the R14 test should be requested following a discussion with your local Clinical Genetics team. If deemed appropriate please contact the Exeter team prior to submitting a case for this R14 test.
Contact details, the R14 request form and record of discussion form can be found here: