Whole genome sequencing (WGS) is available for specific clinical indications in the Rare and Inherited Disease Test Directory through the national Genomic Medicine Service.
Rare disease clinical indications tested using WGS are listed in the National Test Directory for Rare and Inherited Disease (opens in a new tab) (indicated by 'WGS' in the test method).
Prior to ordering a WGS test, clinicians should complete Patient Choice Consent Framework training which can be accessed via the East GLH Patient Choice online training program. (opens in a new tab) The patient choice conversation can be performed remotely and the form submitted without a patient signature – please tick the “Remote consent” section of the form to indicate this.
Additional resources are provided at the end of this page including ordering flow charts for clinicians. Note: There is a specific flow chart (opens in a new tab) for clinicians at Cambridge University Hospitals NHS Foundation Trust (CUH) who should use EPIC to request a WGS test.
If you have not ordered a WGS test before you may find the step by step Clinical Guidelines document below helpful.
Certain tests can be submitted for urgent processing where certain criteria are met. Find out how to request urgent testing.
Please send completed Test Order Form and Record of Discussion Forms to emee.glh@nhs.net, and include “WGS Rare Disease” in the subject heading.
Non-urgent advice: Order form and record of discussion (RoD) form
Relevant forms including patient information leaflets, can be found on the rare diseases WGS ordering page.
Samples
Samples should be sent to the Leicester, Nottingham or Cambridge laboratories using your local test request process and forms. Clearly indicate 'WGS for Rare Disease” on the form.
If a DNA sample is already stored, please refer to the detailed information document below.
National Genomic Research Library
Patients who are being tested using WGS can choose to contribute to the National Genomic Research Library.
R89 - Ultra-rare and atypical monogenic disorders
Note for Clinical Geneticists: Where indicated, a WGS test may be ordered using the R89 (Ultra-rare and aytpical monogenic disorders) Clinical Indication. The list of gene panels available for R89 are below.