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Whole Genome Sequencing referrals

Oxford Centre for Genomic Medicine has a team of Genomic Practitioners who can undertake some of the administrative tasks associated with whole genome sequencing (WGS) requesting, for example. patient consent.

WGS analysis will only begin once all forms have been completed with all the required information and samples have been received.

Avoid sending incomplete documentation, as any omissions will result in a delay to sample submission. The laboratory or Genomic Practitioner Team will need to contact you to request any missing information.

Please find below further information about:

  • requesting WGS for rare disease
  • how to use the national genomic test directory, PanelApp
  • requesting and completing forms for WGS
  • other frequently asked questions.

Contact us

If you need any support, please contact the Genomic Practitioner Team.

Tel: 01865 737863


How to request WGS

Step 1

Check for eligibility

Check the National Genomic Test Directory for relevant documents outlining the eligibility criteria. These are subject to version control and updated regularly.

Step 2

Collect patient sample/s

Blood samples in EDTA are required to extract DNA for WGS.

This should be at least 1-3 mL for neonates and 3-5 mL for other patients referred.

Send the sample/s to Oxford Regional Genetics Laboratories with a completed 'Oxford Genetics Laboratories - request form':

Referral forms - Oxford Genetics Laboratories

Step 3

Complete the test order form

Complete the test order form fully and accurately to prevent delays.

The forms are subject to version control and can be found at the link below.

NHS Genomic Medicine Service test order forms


Completing Whole Genome Sequencing (WGS) forms - YouTube

Step 4

Discuss WGS with the patient / patient's family

This conversation should take place before referring to the Genomic Practitioner Team.

For help completing the Record of Discussion, forward the completed test order form to the Genomic Practitioner Team.

Step 5

Provide relevant leaflets and blood request forms for parents (if necessary)

If possible, please collect the blood samples in the same appointment. Otherwise, you will need to provide a blood test request form for other members of the family put forward for testing.

The forms can be brought to the patient's GP or local hospital.




Last reviewed:13 June 2024