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Whole Genome Sequencing (WGS) as part of the Genomic Medicine Service (GMS) service is now available for specific clinical indications in the Rare and Inherited Disease Test Directory.

Clinical Indications Available for WGS 

Phases 1 and 2 WGS are now live and we will be making these available at the NWGLH in a structured manner. These now include clinical indications across the following specialty groups:












Paediatric Cardiology






For a comprehensive list of WGS indications (with prospective activation start dates under active review) please see:

Rare Disease WGS Clinical Indications

Please note that eligibility criteria apply to WGS testing, these are available at For some clinical indications the WGS test is dependent on carrying out a prior non-WGS genomic investigation.

Patient Choice Consent Framework

Referring clinicians should be familiar with and have undertaken induction on the Patient Choice Consent Framework prior to ordering a WGS test.

WGS Rare Disease – Documents

New Test Order and Record of Discussion forms are available that can be completed electronically or printed and completed by hand. Download these forms onto your computer and open in Adobe software to enable electronic editing.

Test Order Form – Complete ONE form per family

Record of Discussion Form – Complete ONE form per individual

⇒ WGS Record of Discussion (RoD) Form

The patient choice conversation can be performed remotely and the form submitted without a patient signature – please tick the “Remote consent” check box in the Healthcare Professional use only section on p3 of the form to indicate this.

Send completed Test Order Form and Record of Discussion Forms to
Include “WGS Rare Disease” in the subject heading.

Samples for WGS and their Transport

Samples for DNA extraction for WGS should be sent to the Manchester site laboratory accompanied by the NW GLH WGS Test Request Form (Rare Disease Referral form).

Blood samples should be sent in EDTA.

If DNA is already stored at the Manchester or Liverpool site laboratory for an individual, please indicate this and the location on the test request form.  If DNA is stored at another GLH please request for an aliquot of DNA to be transferred. Please indicate that the DNA is required for WGS (a minimum 2ug of DNA is required for WGS).

Patient Information

Patient Information for Rare Disease
Patient Information for Rare Disease – Easy Read
Patient Information for WGS Research


We have prepared an information sheet covering Frequently Asked Questions (FAQs) this can be viewed from the link below.

Rare Disease WGS – FAQs

In case of queries around clinical eligibility please email For laboratory queries, please email (include ‘WGS Rare Disease’ in the subject heading).

Detailed Guidance

Clinician Guidance – Ordering Whole Genome Sequencing for Rare Disease

Additional Documents

WGS Rare Disease – Record of Discussion – Consultee Declaration Regarding Genomic Testing
National Genomic Research Library – Young Person Assent Form
National Genomic Research Library – Withdrawal Form
NHSE policy – WGS Adaptations to seeking and recording patient choices in the GMS in the context of increased remote working