Rare Disease Whole Genome Sequence

How to order a Rare Disease Whole Genome Sequence Test

  1. Identify which Rare Disease WGS test you need

    Order or find a test

  2. Check if your patient is eligible

    Order or find a test

  3. Fill in the Test Order Form 

    Test order forms

  4. Consent your patient (s) for the test. For the majority of clinical indications, we require patients and both of their parents to be submitted as a trio for testing to improve the diagnostic rate and accuracy. Therefore we will require one Record of Discussion form to be completed per person.

    Record of discussion form & clinician guides

  5. Collect samples. Have you organised a blood sample? If the patient is organising a local blood test, they will need a specific blood form. Please complete all the patient details and demographics before giving the form to a patient. All blood samples need to be collected in an EDTA tube

    Blood form

  6. ALL referrals need to go to gst-tr.wgs@nhs.net No paper forms for test order form.

Here’s a reminder of the forms that you need for Rare Disease WGS testing

Record of discussion form Test order form for Rare Disease WGS Blood form if your patient is having a local blood test Patient information sheets Guide for filling out Rare Disease forms

Extra support

Watch this video for a step by step guide to completing the WGS test order form

Sample type and requirements

For Rare Disease, we want a single blood sample per person. This should be in an EDTA tube. We’re unable to accept any other sample tubes.

Stored DNA may be used if a patient has previously had samples taken for previous genomic tests. For patients who have had a bone marrow transplant, a germline DNA sample would need to be acquired from skin fibroblasts, other unaffected tissue, or from a germline sample stored before the patient’s transplant.

In exceptional circumstances, where considered clinically appropriate and if no fresh or stored blood or fibroblast derived DNA is available, DNA extracted from saliva samples may be used.

Need to talk to someone?

We have a lot of information on our website, but if you need to talk to someone we are here for you.

Gst-tr.wgs@nhs.net for clinicians only to submit referrals and answer queries about ongoing referrals.

Gst-tr.hellogenomics@nhs.net if you have a clinical question or need help to submit a referral. This is also the email to use if you need training for your team about WGS such as consent training. We are happy to hear from patients through this inbox.

Gst-tr.southeastglh@nhs.net for all other non-clinical questions relating to our laboratories, testing or funding questions.

Go to Cancer Whole Genome Sequence :
Skip to toolbar