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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 which can be accessed via the 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.

Flow charts for clinicians are included below; there is a specific flow chart for clinicians at Cambridge University Hospitals NHS Foundation Trust (CUH) who should use EPIC to request a WGS test.

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

If you have not ordered a WGS test before you may find the step by step Clinical Guidelines document below helpful.

WGS Clinical Indications - Rare and Inherited Disease

Order form and Record of Discussion (RoD) form

All the forms you need for whole genome sequencing, including patient information leaflets, can be found here.


Please arrange for samples to be taken and 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.

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.

Flow charts for clinical guidance

Clinician's guide Whole Genome Sequencing

Letter to GP for parental blood samples