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Whole Genome Sequencing - HaemOnc

The Genomic Medicine Service (GMS) Whole Genome Sequencing (WGS) service is now available for a limited number of clinical indications. The service is in a testing phase and for patients where genetic testing has not been previously performed, parallel testing using current practice is required.

Please note: This information focuses on more detailed information on WGS tests within haemato-oncology. The main WGS page can be found here.

Clinical indications available

The following patients are eligible for WGS within haemato-oncology:

  • All patients (adult & paediatric) with acute leukaemia (includes acute myeloid leukaemia, acute lymphoblastic leukaemia and acute leukaemia of ambiguous lineage) at initial diagnosis and/or on relapse.
  • Paediatric patients (aged 19 and under) with any other type of haematological malignancy at diagnosis and relapse.

The national Genomic Medicine Service WGS portal (opens in a new tab) can be used to search for available clinical indications and eligibility criteria. You must be using an NHS computer to use this portal.


For most Trusts, an acute leukaemia tumour sample (blood or bone marrow) will be submitted by the local Single Integrated Haematological Malignancy Diagnostics Service (SIHMDS).

The clinical team need to submit a germline sample, either saliva or a skin biopsy (see clinician guidance above). For further advice about individual patients, please contact emee.glh@nhs.net.

Test request forms

Test request forms are required for germline samples (see below for CUH patients). Tumour sample request forms will be completed by the local SIHMDS, but if an SIHMDS service is not used then a clinician from the referring hospital would need to send a form with the blood or bone marrow sample.

The GMS WGS Portal (opens in a new tab) can be used to generate a partially completed WGS test request form for you to download and print.

Please download the referral forms below to your computer to enable editing.

For germline samples from CUH patients, a test request form is not needed but the sample can be collected with the EPIC order 'HODS WGS GERMLINE DNA EXTRACTION [LAB8586]'

Record of discussion

A Record of Discussion form must be completed for each patient. This form, as well as further information on the necessary training that needs be completed before a clinician can order a WGS test can be found here.

Patients who have a WGS test will be given the opportunity to participate in the National Genomic Research Library. Further information about this can be found on the Health Education England (opens in a new tab) website.

Completed documents

Please send completed documents to:
CUH Genomic Laboratory, Box 143, Cambridge University Hospitals, Cambridge, CB2 0QQ.

Electronic copies of completed documents can also be sent to emee.glh@nhs.net (please include “Haem-onc WGS” in the subject heading).

If you have any enquiries please email us on emee.glh@nhs.net

Clinical guidelines