Haematological malignancy

With the exception of the specialist tests described below, assays on the National Genomic Test Directory (opens in a new tab) 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:

• Haematopathology and Oncology Diagnostic Service, Cambridge (HODS (opens in a new tab))
• Haematological Malignancy Diagnostics Links, Leicester (HMDL)
• Nottingham Haematological Malignancy Diagnostics Service (HMDN)

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 is located on our main test order page.

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

The main referral form for Haematological Malignancy tests can be found here.

Specialist testing

Certain low-volume, specialist assays are commissioned at specific GLHs, rather than across all. Further information including a list of the assays NOT offered by East GLH and the appropriate referral forms, can be found here.

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 cuh.geneticslaboratories@nhs.net