WGS testing for eligible rare diseases

Your patient is eligible - now follow this simple checklist to process your request for WGS:

WGS request order form for patient:

and request order form for each family member:

 Complete the form and email to nbn-tr.geneticsexportscientists@nhs.net


  Patient information leaflets:




- complete this standardised record of discussion form to record the patient choice process in which the patient is enabled to make an     informed decision regarding the diagnostic clinical test, distinct from the decision to particpate in the research offer

Variations of the record of discussion form (research offer, young persons assent, wihdrawal and Consultee declaration) can be found in the block to the right 


 Arrange for phlebotomy for blood samples using either the Bristol or Exeter Sample Form



Send the sample to the laboratory by the approved [routes]


The results will be returned to the email address completed on the request order form


The turn around time is (add)


 You wish to download this page checklist as a prompt and there is a handy Genomics Education Programme  developed about patient choice and requesting WGS 



Need more information?

  • WGS for Eligible rare diseases Clinical Guide a companion document detailing the processes outlined on these pages
  • Have a look at the SWGLH education page for further training and education resources to support the clinician with patient choice conversations

Contact the Bristol Lab Rare Disease Team

For WGS enquiries relating to renal & neurology 

T: 0117 4146168   E: nbn-tr.geneticsenquiries@nhs.net




Contact the Exeter Lab Rare Disease Team

For enquiries relating to WGS vs. WES & endocrinology & neonatal diabetes service

T: 01392 408229     E: rde-tr.moleculargeneticsadmin@nhs.net

WGS Record Of Discussion forms - additional

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There are a number of related variations of the record of discussion forms to support the context of the patient's situation

– to record or update an individual’s choice about the NGRL if this was not made at the time when the clinical test was discussed.

 – mandatory to be completed by a consultee making a decision about the NGRL for an adult without capacity

 – may be completed by a young person when their parent or guardian is making choices on their behalf.

 – to be completed by individuals wishing to withdraw their participation in the NGRL


WGS testing for eligible rare diseases