If you have not ordered a whole genome sequence (WGS) test before and need further information on the process or training required please refer to our guidance page on WGS for rare diseases.
Additionally, the documents below has been produced to help you with requesting WGS tests for children with 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.
Order forms
To avoid delays in testing, please ensure Requesting Organisation, Responsible Clinician and Contact Emails are included and clearly printed on the form.
Record of discussion forms
To avoid delays in testing, please ensure responses to Questions A and B on the form are completed appropriately and that the form is dated and includes a healthcare professional signature.
NHS Genomic Medicine Service record of discussion form
Translations of the record of discussion form are also available.
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.
Collecting parental samples
For rare disease WGS testing, we recommend including samples from both parents for trio analysis where possible. The letter below can be provided to parents to give to their GP so that a sample can be collected.
Patient information
Patient information leaflets are available from the NHS, including easy read versions.
Whole genome sequencing patient information leaflets
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.