Rare disease - whole genome sequencing (WGS)

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 the overview webpage.

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.

WGS test order form

Order form: NHS England » NHS Genomic Medicine Service test order forms

Record of discussion form

NHS England » NHS Genomic Medicine Service record of discussion form

The record of discussion form has been translated into a number of languages. These are available here.

Patient information - rare disease WGS

NHS England » Whole genome sequencing patient information leaflets

Easy read version is also available on this link.

These are also available in various languages and can be accessed here.

The National Genomic Research Library

Patients who are being tested using WGS can choose to contribute to the National Genomic Research Library.