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East Genomics

Whole genome sequencing - rare disease

Whole genome sequencing (WGS) is available for specific clinical indications in the Rare and Inherited Disease Test Directory through the national Genomic Medicine Service.

In October 2021 an updated version of the National Test Directory for Rare and Inherited Disease has been published; further updates are expected early 2022. Please see the table below for a full list of WGS Clinical Indications for Rare and Inherited Disease.

Prior to ordering a WGS test, clinicians should complete Patient Choice Consent Framework training; please find the East GLH online training portal here:
East GLH Patient Choice online training program 

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.

Clinicians at Cambridge University Hospitals NHS Foundation Trust (CUH) should use EPIC to request a WGS test (see flow chart below).

Please send completed Test Order Form and Record of Discussion Forms to, and include “WGS Rare Disease” in the subject heading.

WGS Clinical Indications - Rare and Inherited Disease (updated October 2021)

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.

Order and consent forms

The Test Order form (updated October 2021) and Record of Discussion forms can be completed electronically or printed and completed by hand. Please download these forms onto your computer and open in Adobe software to enable electronic editing.

The Record of Discussion form has also been translated into a number of languages. These are available here. Please let us know if you require this in other languages.


Please arrange for samples to be taken and sent to the Leicester, Nottingham or Cambridge Laboratories using our normal referral form (below) or your local test request process. Clearly indicate 'WGS for Rare Disease – East GLH' on the forms.

If a DNA samples are already stored, please refer to the detailed information document below.

Flow charts for clinical guidance

Should a patient lack capacity to make the decision to go ahead with genomic testing, or be between 6 and 15 years of age, specific forms need to be completed.

These can be found here.

Patient information

Patient information on WGS has been produced, and is available on our webpage for patients and carers.

Clinician's guide Whole Genome Sequencing