Whole Genome Sequencing Documentation


A set of standardised national documentation to support the Whole Genome Sequencing service.

Patient access to the national WGS service is now available through the Genomic Laboratory Hub network. Phase 1 indications are eligible and this section aims to support clinicians with the referral and research consenting process.

Before sending a patient sample please check against the relevant eligibility criteria documentation.

1. Complete Genetic Testing Request Form – Rare Disease for each person stating clearly “For WGS”

Complete Request Form – Rare Disease referral form for each person
  • One form must be completed for each family member
  • State clearly “For WGS” in Test section of form
  • Send for Phlebotomy

2. Complete WGS RD Trio Referral Form

  • One form can be completed per family group
  • This must be completed, but can be done after clinic
  • Click “Fill and sign” icon to complete
  • Electronic completion will auto-populate some fields so is recommended
  • All fields must be complete
Test Directory Clinical Indication & Code
  • In addition to the primary indication you can may also choose secondary indications by stating a virtual panel in the Additional Panel box. Virtual panel information can be found in PanelApp. If you need advice on how to select the appropriate panel, please contact your local laboratory.
Genomics England Panels App
HPO Terms or Phenotypic Indications

Either use the standard HPO terms using the app or select from the phenotypes listed on the form.

HPO Terms
  • Standardized vocabulary of phenotypic abnormalities encountered in human disease
  • Follow link
  • Enter a search term and select from the drop down menu
  • Indicate presence / absence in each family member
  • Multiple terms can be used
Human Phenotype Ontology App

3. Record of Discussion (RoD) Form

  • Needs to be completed for each member of the trio, duo, or singleton case. Anyone of age 16 years and over should complete the form.
  • A parent can sign for a child, please indicate in appropriate box
  • If signing as a Consultee, on behalf of an adult without capacity, please indicate in the appropriate box. Instructions for the Consultee: If the Research option is selected (i.e. The answer to question B is ‘Yes’), you MUST complete the Mandatory Genomic Consultee Declaration.
  • PDF can be completed electronically using the “fill and sign” icon
  • It will then auto-populate the demographics

The Record of Discussion Form has four sections:

Record of discussion regarding genomic testing
  • Addresses issues relating to the genomic testing
  • These topics need to be discussed with each family member
Record of discussion regarding the national genomic research library (NGRL)
  • Data sharing agreement
  • These topics need to be discussed with each family member
National Genomics research Library
Confirmation of your genomic test and research choices

This must be completed
If you have discussed the NGRL Tick YES to option A.
Depending on the patient’s response tick either YES or NO to option B.
If you have not discussed the NGRL then tick NO to option A and move to the next section for the patient or guardian signatures

Healthcare professional use only
  • Patient category must be completed in all cases.
  • Test Type is always Rare and Inherited Diseases -WGS.
  • If the answer to research choice A is NO, then fill this section.
  • Enter your name as the responsible clinician and the local hospital number

4. Email completed forms

Email the completed set of forms to your local GLH laboratory

  • RD Trio WGS form per family group
  • RoD form for each individual

Enter proband NHS number and WGS request in the subject field

Samples will not be dispatched for analysis until all forms have been received

Leeds Genetic Laboratory

Sheffield Diagnostic Genetic Laboratory

Newcastle Genetic Laboratory

Accessed via the Genomics Education Programme website

National Genomic Test Directory

The 2020/2021 National Genomic Test Directory for rare and inherited disorders and cancer.

View Directory