Haematological malignancy

The South West Genomic Laboratory Hub (SWGLH) offers the following genomic tests for patients with haematological malignancy:

• Karyotyping, FISH, direct mutation, molecular monitoring and gene panel tests for haematological malignancy affecting the blood and bone marrow. The drop down list choices on this page will take you through the requesting process.
• For FISH, direct mutation and gene panel tests for lymphoma and related disorders not affecting the blood or bone marrow: Please see requesting a genomic test for solid tumours
• Whole genome sequencing for any haematological malignancy in the children and young adults and in all patients with acute leukaemia.

The best place to check what test you need is the National Genomic Test Directory. These directories provide information on the most appropriate test for clinical indications, who is eligible for testing, who can request tests and which technology will be used for testing.

When you request a genetic test for cancer, you may or may not be aware that some of these tests are run using whole genome sequencing (WGS).  If your test is run using WGS technology, you will need additional forms. These can be found in the WGS section here.

Eligibility criteria for genomic tests can be found in the National Genomic Test Directory.

This lists the clinical specialties that would be expected to request for a given clinical indication and sets out which patients should be considered for testing.

All  current versions of the resources associated with the request process are curated on NHS England Genomic website under the Genomics Resources tab.

The NGTD indicates several possible alternative tests for some indications. Regional policy about the best test for each indication is being devised by the SWGLH and the haematological malignancy Cancer Alliance Advisory Groups (CAG)

All samples for genomic testing for haematological malignancy should be accompanied by a fully completed

BHODS-form-v5-18092025

Please note, if the test you are requesting uses Whole Genome sequencing, you will need to use additional forms, these can be found in the WGS page here. 

An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place before testing is requested.

It is the referring clinician’s responsibility to ensure that the patient/carer knows the purpose of the test and that the sample may be stored for future diagnostic testing. In submitting a sample with a request form, the clinician confirms that informed consent has been obtained for (a) testing and storage (indefinitely) (b) the use of this sample and the information generated from it to be shared with members of the donor’s family and their health professionals (if appropriate). The patient should be advised that the samples may be used anonymously for quality assurance and training purposes.

If stated as a requirement for a specific test, a record of this discussion must be retained within the patient record when a genomic test is ordered.

For more information please view the Consent and Confidentiality in Genomic Medicine guidelines from the Joint Committee on Medical Genetics.

Where possible, samples for diagnostic or monitoring genomic tests should be collected alongside other samples for the regional Specialist Integrated Haematological Malignancy Service (SIHMDS).

• Please ensure that you verify the identity of the patient prior to taking the sample.
• Bone marrow aspirate is the preferred substrate for Haematological malignancy testing.
• Blood or other tissue may be suitable where sufficient (>20%) involvement is identified e.g. for acute leukaemia with a high circulating blast count. Pleural fluid or other tissue with a malignant infiltrate may also be suitable but should be discussed with the SWGLH, contact information below
• 1-2ml of bone marrow aspirate or 10-20mls of blood collected into EDTA is required for direct mutation, molecular monitoring or gene panel tests
• 1-2ml of bone marrow aspirate or 5-10mls of blood collected into lithium heparin or heparinised media is required for karyotype and FISH

• To maintain clinically useful test turnaround times, samples should be transported urgently to the SWGLH for processing and testing.
  • For samples requiring RNA analysis there is a 72 hour cut-off for receipt of samples as reliable quantitation is not possible from follow-up samples older than 72 hours. Samples received that are older than 72 hours will not be processed and a repeat sample will be requested.
• Samples will usually be sent internally to the local pathology specimen reception and, then onwards, to the SWGLH at the Bristol Genetics laboratory site, using the rapid transport routes that have been established from all SW Trusts.

For a full list of sample requirements and transport guidance, please visit the samples and transport page of the website. 

Turnaround times (TATs) for genomic tests are continually refined through the ongoing review of testing standards by NHSE, the SWGLH and CAG working groups.

• As a guide, example current TATs are:
  • PML-RARA FISH <24 hours
  • BCR-ABL1 PCR, ALL FISH <3 days
  • Urgent karyotype/FISH <7 days
  • Urgent gene panel, direct mutation tests, CML monitoring <14 days
  • Routine karyotype, FISH, panel <21 days

Visit the results and turnaround page for more information.

Guidance for the Management of possible Germline Variants Identified During Routine Genomic Testing in Haematology can be found here: SWGLH Management of Possible Germline Variants Identified During Routine Genomic Testing in Haematology v2

Further information can be found on the Integrated Haematological Malignancy Diagnostics service site and for particular reference the back of the Bristol Haemato-Oncology Diagnostic Request Form: BHODS-form-v5-18092025

A copy of the SWGLH Haematological malignancy – Clinical Guide can be downloaded here:

SWGLH Haem_Malignancy clinicains guide_vs 3.0