The rapid trio sequencing service aims to provide a diagnosis for acutely unwell children.
R14 test for acutely unwell children
This test (R14) is for acutely unwell children with a likely monogenic disorder when a diagnosis is required more urgently to aid clinical management, prenatal testing or pre-implantation genetic diagnosis.
This test is carried out at Exeter Laboratory, part of the South West GLH. At this time, the test should be requested following a discussion with your local Clinical Genetics team; if deemed appropriate please email the Exeter team on firstname.lastname@example.org prior to submitting a patient for this test.