Whole Genome Sequencing Testing For Rare Disease

Is my patient eligible?

To review patient eligibility please Check the National Genomic Test Directory

All  current versions of the resources associated with the request process are curated on NHS England Genomic website under the Genomics Resources tab

For ease of navigation direct links are in blocks on below.

One page pathway guide for Rare Disease

Requesting reanalysis of existing data

For patients who have already had a WGS test under the National Genomic Test Directory (NGTD), reanalysis of a new gene panel or applying the latest version of the previous panel is only available where there is a change in clinical circumstances to justify the test.  This would include a significant change in the patient’s disorder, potential new treatment or clinical management applicable or a new pregnancy which might be impacted by testing.  There also needs to be a significant expectation that the re-analysis will provide a diagnosis which was not made by the original test.

For cases that satisfy those requirements, please complete the form below:

 and send to: SWGLHexports@nbt.nhs.uk 

Requesting a WGS test for Rare Disease

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NHS WGS test order form for rare disease:-


For sample information and transport options please see: Sample Requirements and Transport

Complete the two forms below and send to mailto: SWGLHexports@nbt.nhs.uk

NHS Genomic Medicine Service record of discussion form


Additional Forms

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All published forms can be found directly on the NHS Genomic Medicine Service Resources website.

For expediency we have directly linked to additional forms that may be required for specific circumstances in the conversation process:

NHS Genomic Medicine Service young persons' assent form

NHS Genomic Medicine Service genomic consultee declaration (adult requests only)

Below is the form for opt in and out to the National Genomic Research Library as part of the conversation process:

NHS Genomic Medicine Service participation in research form


Clinical Guides for Rare Disease

Biochemistry Clinical Guidelines

One page pathway guide for the request process for Whole Genome Sequencing in Rare Disease can be accessed in the drop down at the top of this page.

The HEE resource for guidance on elements of the consent conversation can be found here:

HEE GEP Guide to requesting WGS test - RD


Genomics Education Programme Resources

There are many excellent education packages to support your genomic learning journey at HEE Genomics Educational Resources

For more targeted HEE Genomics Education resources to support Whole Genome Sequencing test pathway 

Whole Genome Sequence request need advice?

Contact us - fingers on a telephone number pad

If you require further information regarding genomic testing please contact the laboratory

Tel:0117 4146168 or SWGLHexports@nbt.nhs.uk

If you require support for navigating the pathway including completion of paperwork please contact the Genomic Healthcare Practitioners

email rduh.swgenomicpractitioner@nhs.net