Rapid Whole Exome Sequencing for fetal abnormality with a suspected genetic diagnosis (R21): consent and Record of Discussion (2 of 2)

Rapid Whole Exome Sequencing is now available for pregnancies in which there is a fetal abnormality on scan and a genetic diagnosis is suspected. The NHS Genomic Medicine Service code for this test is R21. It is therefore sometimes also called the ‘R21 test’.

This is the second of two short training videos aimed at healthcare staff who will be requesting this test.  It describes the consent process and the ‘Record of Discussion’ that must be completed to document the conversation between clinician and family members as part of the test ordering process. 

The first video in this series can be found here and provides step-by-step instructions on the test, who should be offered it, and how to request the test.  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 critically ill neonates and children in NICU and PICU, in whom a genetic diagnosis is suspected.  You can find out more about this test and how to request it here.