Whole Genome Sequencing - Rare Disease C&S GLH
Please note that WGS testing will only begin and samples will only be sent for sequencing once all forms have been completed with all the required information and samples have been received. The omission of any information will result in a delay in sample submission. The laboratory will need to contact you to request any missing information, please avoid sending incomplete documentation.
Please see the National Genomic Test Directory for Rare and Inherited Disease to see which clinical indications are tested for by WGS.
Semi-Rapid testing for clinically urgent patients is available for the following indications, by Exome sequencing. Please see the Rare and Inherited Disease eligibility criteria document for further information on eligibility. To discuss semi rapid testing please contact the relevant testing laboratory in advance of sending the samples to this laboratory
| Code | Clinical Indication | Testing Laboratory |
|---|---|---|
| R15 | Primary immunodeficiency or monogenic Inflammatory Bowel Disease | Great Ormond Street Genetics Laboratory |
| R98 | Likely inborn error of metabolism - targeted testing not possible | West Midlands Regional Genetics Laboratory |
| R135 | Paediatric or syndromic cardiomyopathy | Oxford Genetics Laboratory |
| R257 | Unexplained young onset end-stage renal disease | Bristol Genetics Laboratory |
Urgent testing for children in NICU/PICU should be via the R14 Rapid Clinical Genome indication where appropriate and following discussion with Clinical Genetics.
Please note that if additional panels are selected for testing on the WGS test order form then the laboratory that provides testing for the main clinical indication selected on the form will also analyse these panels.
Guide and FAQ document
Guide and FAQs of Genomic Medicine Service and Whole Genome Sequencing.
This document contains helpful information on the Genomic Medicine Service, how to use PanelApp, and how to request testing and complete forms for Whole Genome Sequencing. If you have a query regarding Whole Genome Sequencing, please check whether your question is present within the frequently asked questions section before contacting the laboratory.
How to order a Whole Genome sequencing test
In brief, to request a WGS test for your patient you will need to complete the following steps:
Step 1 - Check patient eligibility
Eligibility criteria for rare diseases can be found in the rare and inherited disease eligibility criteria document for the Genomic Medicine Service.
If you need to query whether you can request WGS for your patient then please contact bwc.centralsouthglh@nhs.net.
Step 2 - Collect patient samples
Blood samples in EDTA are required in order to extract DNA for Whole Genome Sequencing. This should be at least 1-3 mL for neonates and 3-5 mL for other patients referred. Blood samples should be sent to your local genetics laboratory and will be forwarded on to the West Midlands Regional Genetics Laboratory for DNA extraction and sending for Whole Genome Sequencing. Samples can either be sent with the Whole Genome Sequencing test order form (see below), or with a standard genomics referral form with WGS noted on the form (and the Whole Genome Sequencing test order form and Record of Discussion form sent by e-mail).
For the majority of clinical indications currently being tested, it is highly recommended that a trio is referred for testing (proband and biological parents), however, it is acceptable to refer a duo (proband and one biological parent) or singleton where one or more parents are not available. It is recognised that for some patients, with an adult-onset disorder, parental samples will not be available and singleton testing will be required.
It is possible for a stored DNA sample to be used for Whole Genome Sequencing, but the sample must have been extracted in a UKAS-accredited laboratory and will be required to pass all quality control checks. Please contact your local laboratory if you think that there is stored DNA available for testing. However, a fresh blood sample is preferred if possible.
If the DNA extracted from a blood sample you have sent from a patient, or from stored DNA, does not pass the quality control checks required then you will be notified of this and the requirement for a new blood sample to be sent.
Step 3 - Complete Test Order form and Record of Discussion form
Whole Genome Sequencing requires:
- a blood sample for each family member to be tested
- Test Order Form for Family
- Record of Discussion form for each family member recruited (Access this form in a number of different languages here)
- If more than two family members are being recruited there is a form to be completed to add additional family members
All forms are editable PDFs and should be e-mailed to bwc.centralsouthGLH@nhs.net when completed. Please see the NFAW/Guide document for further information on how to complete the Test Order and Record of Discussion forms. All forms should be completed in full with all pages of the forms completed. These forms should not be used for non-Whole Genome Sequencing testing.
All forms must be completed electronically to enable them to be processed accurately.
Where a patient is not able to complete a Record of Discussion form (deceased/lacks capacity) then a Consultee Declaration form can be completed by a consultee of the patient
If required, a young person assent form is available for clinicians to utilise
If a patient wishes to withdraw consent for their data to be available in the Research Library, the following form should be completed and returned to the laboratory – download here
If patient wishes to opt-in for their data to be available in the Research Library, if they had previously not provided consent for this, then the following form should be completed and returned to the laboratory – download here
A note on penetrance setting selection
Previously a penetrance was required to be selected on the WGS Test Order Form. However, as per national guidance all patients will now be processed using incomplete penetrance selection regardless of what is selected on the form.
Turnaround times
Please note that all turnaround times do not begin until all samples and completed forms have been received. The omission of any information will result in a delay in sample submission. The laboratory will need to contact you to request any missing information, please avoid sending incomplete documentation.
There is currently a 6-week turnaround time for Whole Genome Sequencing data to be received back from Illumina/Genomics England once samples have been sent. There is then a 6-week turnaround time for the reporting laboratory to analyse and report the results to the referring clinician. Results should therefore be received within 12 weeks of receipt of a complete referral. Please note that this is an indicative turnaround time while the pathways for WGS are being fully established. Please note that turnaround times are currently longer than expected, and patients should be counselled that results are likely to take longer than 12 weeks.
Reanalysis
Reanalysis of WGS sequencing data is available, however, we highly recommend that the initial request is complete so please consider all panels which may be appropriate prior to sending Test Order Form. 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 request form and send it to: bwc.centralsouthGLH@nhs.net
Updated 09/09/2026