If you have not ordered a whole genome sequence (WGS) test before and need further information on the process or training required in order a WGS test please refer to our guidance page on WGS for rare diseases.
If you are supporting a family following the sudden unexplained death of a child (Test R441) please see our R441 clinical guidance before requesting tests.
Additionally, the document below has been produced to help you with requesting WGS tests for children with rare diseases:
Order forms
The Test Order form and Record of Discussion forms can be completed electronically or printed and completed by hand. To complete electronically, please download these forms onto your computer and open in Adobe software to enable electronic editing; please use the space bar if you need to leave any boxes blank (e.g. in postcode box).
Please send the completed forms (including Record of Discussion form) to emee.glh@nhs.net, and include “WGS Rare Disease” in the subject heading.
Test order forms
NHS Genomic Medicine Service test order forms (opens in a new tab)
Record of discussion forms
NHS Genomic Medicine Service record of discussion form (opens in a new tab)
Translations of the record of discussion form are also available.
Patient information - rare disease WGS
Patient information leaflets are available from the NHS, including easy read versions.
Whole genome sequencing patient information leaflets (opens in a new tab)
Translated leaflets are also available.
The National Genomic Research Library
Patients who are being tested using WGS can choose to contribute to the National Genomic Research Library.