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.
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 contact the Exeter team prior to submitting a patient for this test.
Please find below a couple of videos which you may find useful: