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East Genomics

Rapid exome sequencing

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:

Video - Why and how to test

Video - What to discuss with parents and how to take consent

Further information, guidance and test forms

Contact details, the R14 request form and record of discussion form

Guidance document