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Rapid Whole Exome Sequencing for critically ill neonates and children with a suspected genetic diagnosis (R14): test requesting (1 of 2)
Rapid Whole Exome Sequencing is now available for critically ill neonates and children in NICU and PICU, in whom a genetic diagnosis is suspected. The NHS Genomic Medicine Service code for this test is R14, and it is sometimes also called the ‘R14 test’.
This is the first of two short training videos aimed at healthcare staff who will be requesting this test. It provides step-by-step instructions on the test, who should be offered it, and how to request the test.
A second training video describing the consent process (Record of Discussion) is also available on this platform and can be accessed here. We recommend that both videos are viewed in full before commencing test requesting and consent to ensure both processes are carried out correctly.
Rapid exome sequencing is also available for pregnancies in which a fetal abnormality is detected and a genetic diagnosis is suspected. You can find out more about this test and how to request it here.
Resource details
| Contributed to: |
Community contributions Community resources are online learning and digital materials provided by the wider Learning Hub community that anyone can contribute to. |
| Contributed by: | Jude Craft |
| Authored by: |
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| Licence: | © All rights reserved More information on licences |
| Last updated: | 14 September 2021 |
| First contributed: | 09 September 2021 |
| Audience access level: | Full user |
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