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.
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 contact the Exeter team prior to submitting a patient for this test.
Please find below a couple of videos which you may find useful:
Further information, guidance and test forms
R21 test for fetal anomalies
The guidance document for the rapid exome sequencing service for fetal anomalies (clinical indication R21 on the National Genomic Test Directory) is now available on the NHSE website.
It supports the eligibility criteria to give more detailed guidance to healthcare professionals on the fetal anomalies more likely to be associated with a monogenic cause and hence would be eligible for testing.
It provides information on the pathways for referral, where the test will be performed as well as details of the testing, analysis and reporting that is performed.