SWGLH Requesting a genomic test for haematological malignancy
Requesting a Genomic Test for 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. Follow the sequential steps to access your genomic request here
- 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 young (<20 years) and in all patients with acute leukaemia: Please see requesting a whole genome sequencing test
Step 1 Check patient eligibility
Eligible haematological malignancies and the available tests are shown in the National Genomic Test Directory for Cancer (NGTD).
- 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)
Step 2 Collect the sample(s)
Where possible, samples for diagnostic or monitoring genomic tests should be collected alongside other samples for the regional Specialist Integrated Haematological Malignancy Service (SIHMDS).
- 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 SW GLH.
- 1-2ml of bone marrow aspirate or 5-10ml of blood collected into EDTA is required for direct mutation, molecular monitoring or gene panel tests
- 1-2ml of bone marrow aspirate or 5-10ml of blood collected into lithium heparin or heparinised media is required for karyotype and FISH
Step 3 Complete the request form
All samples for genomic testing for haematological malignancy should be accompanied by a fully completed Bristol Haemato-Oncology Diagnostic Service request form
Step 4 Transportation of sample and request form to the SWGLH
Transport samples and request form to the SWGLH
- To maintain clinically useful test turnaround times, samples should be transported urgently to the SWGLH for processing and testing.
- Samples will usually be sent internally to the local pathology specimen reception and then onwards to the SWGLH (Bristol Genetics laboratory site), using the rapid transport routes that have been established from all SW Trusts.
- Download a haematological malignancy sample and transport summary
Step 5 What are the turnaround times for the test?
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 <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
Step 6 How will the result be returned?
The Genomic Report will be returned to requesting clinical teams via SIHMDS integrated diagnostic reporting software such as HILIS and/or the requestor’s email indicated on the test request form. We recommend that this should be a generic continuously monitored email address.
- The SW GLH genomic report will describe findings only in genes that are clinically relevant for the specific sub-type of haematological malignancy. The report will also indicate robust prognostic and diagnostic associations and standard of care (NICE approved) treatment.
- For the infrequent cases that require further discussion, genomic test results will be discussed at SW GLH Genomics Tumour Advisory Board meetings (GTAB), held by Webex as part of the weekly SIHMDS Diagnostic Review Meeting.