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East Genomics

Haematological malignancy

East GLH provides molecular genetic and cytogenetic testing for the diagnosis and follow up of haematological malignancies in the East Midlands and East of England.

With the exception of the specialist tests described below, assays on the National Genomic Test Directory including next-generation sequencing panels are carried out at the GLH's lead laboratory based at Cambridge University Hospitals.

A subset of assays are also offered at University Hospitals Leicester and/or Nottingham University Hospitals. Details of recommended diagnostic pathways are available through the local Single Integrated Haematological Malignancy Diagnostic Service (SIHMDS).

Whole Genome Sequencing

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 indicated.

Further information on Whole Genome Sequencing, the tests available and the appropriate referral form can be found here.

Referral pathways

Samples can be referred for genomic testing through two pathways:

  1. Referral from one of the SIHMDS in the East region:

Samples will be referred directly from the SIHMDS according to clinical indication. This will be the pathway for almost all bone marrow samples (see below for specialist assays) and for other solid tissue haematopathology specimens.

2. Directly from clinicians

This pathway is appropriate for peripheral blood samples where a clinician wishes to request a very specific molecular test and additional SIHMDS assessment is not required. This mostly applies to peripheral blood BCR-ABL1 quantification and MPN screening.

Request form for peripheral blood BCR-ABL1 quantification and MPN screening - COMING SOON!

Samples for haemato-oncology genomic testing at the Cambridge Genomic Laboratory should be addressed to:

Cambridge University Hospitals, East Genomic Laboratory Hub, Cambridge Genomic Laboratory, Box 143, ATC Level 6, Addenbrooke’s Hospital, Hills Road, Cambridge, CB2 0QQ

New Referral form for Haematogical Maligancy COMING SOON!

Specialist testing

Certain low-volume, specialist assays are commissioned at specific GLHs, rather than across all.

The following assays are not offered within East GLH.

  • NPM1 MRD. Please note: A/B/D transcripts will be offered in East GLH in future and non-A/B/D transcripts will remain a specialist test
  • All other AML MRD
  • ALL MRD (paediatrics / TYA)
  • ALL MRD (adult)
  • BCR-ABL1 rare (non-p210) transcripts
  • BCR-ABL1 TKD mutation testing by NGS
  • KIT D816V high sensitivity testing (e.g. peripheral blood)
  • FIP1L1-PDGFRA high sensitivity (MRD)
  • Histiocytosis testing

Details of the relevant GLH and the appropriate referral forms for these tests can be found here

Please note that for some regions where AML MRD testing has previously been sent to a different specialist laboratory, discussions are still underway to agree on transition arrangements including for historical patients.

Peripheral blood samples can be sent directly to the specialist laboratory by clinicians using the referral forms above.

Bone marrow samples will in most cases be sent to these specialist laboratories by the SIHMDS service. For RNA-based assays (e.g. AML tests, BCR-ABL1), samples require processing within ~48 hours. In some circumstances it will be necessary for clinicians to send samples directly to the specialist testing laboratory, for example because sampling towards the end of a week prevents immediate transfer from the SIHMDS to the specialist laboratory and local RNA extraction is either unavailable or will significantly delay turnaround times. Clinicians are advised to discuss pathways with their local SIHMDS.

Haemato-oncology Genomics Tumour Advisory Board

The East GLH haemato-oncology genomics tumour advisory board (GTAB) meets weekly by videoconference on a Tuesday afternoon. Its aims are to:

  • provide a multidisciplinary forum for discussion of complex genomic results relating to adult and paediatric haematological malignancies
  • facilitate interpretation of data in the context of current clinical information and to support integration into standard diagnostic and clinical pathways
  • consider whole genome sequencing (WGS) data in the light of standard of care testing, in order to inform the need for further technical validation of potentially actionable somatic or germline variants

The following patients (adult and paediatric) are recommended for discussion at the GTAB:

i) All acute leukaemia cases with WGS data. Cases will be listed by the reporting scientific team once WGS data analysis has been performed

ii) Any haemato-oncology case in which additional scientific discussion of non-WGS genomic data would be valuable to the disease-specific clinical MDT. Examples may include where other genomic testing (e.g. panel) leads to identification of a potential pertinent germline variant or where uncertainty around the driver status of a variant has a major impact on management. Cases may be listed by the reporting scientific or clinical team, or by the local SIHMDS or clinical team

To refer a patient, please email

Contact details

GLH clinical lead (interim*) for haematological malignancies is Dr Pedro Martin-Cabrera (myeloid and general queries), email:

GLH haematopathology lead (interim*) is Dr Livia Raso-Barnett (lymphoid queries), email:

*Standing in for Dr Audrey Morris.

The GLH lead scientist for haematological malignancies is Matthew Cullen; email

Please note, our contact email addresses have recently changed. Please use the following email addresses:

Please note, solid cancer enquiries should be directed to