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
Email: clinical.genetics.wgs@ouh.nhs.uk
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
Video
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.
- Oxford Genetics Laboratories request form (pdf)
- Whole genome sequencing patient information leaflets - NHS England
- National Genomic Research Library patient information sheet (pdf)
Links
- Central and South Genomics Service
- Genomics - Exeter Clinical Laboratory International
- Whole Genome Sequencing - Rare Disease C&S GLH - Birmingham Women's and Children's
- For professionals - Oxford Centre for Genomic Medicine
- Genetics - Salisbury NHS Foundation Trust
Resources
- National Genomic Test Directory
- NHS Genomic Medicine Service (GMS) Signed Off Panels Resource - PanelApp
- Human Phenotype Ontology (HPO)
Forms
- R14 Rapid Genome Sequencing Service - Exeter Clinical Laboratory International
- NHS Genomic Medicine Service test order forms (for WGS test order form)
- NHS Genomic Medicine Service record of discussion form
- NHS Genomic Medicine Service genomic consultee declaration
- Referral forms - Oxford Genetics Laboratories (for WGS blood request form)
- Consent form for genetic testing and storage of genetic material (pdf, 198 KB)
