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R14 for acutely unwell children

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 rduh.exeterexome@nhs.net prior to submitting a patient for this test.

Further information, guidance and test forms

Contact details, the R14 request form and record of discussion form (opens in a new tab)

Guidance document (opens in a new tab)