Use of test
ETV6 and RUNX1 are rearranged by a translocation between Chromosomes 12 and 21 in a subset of patients with B-cell acute lymphoblastic leukaemia (ALL). This fusion is more common in the paediatric age group. These two genes are also known as TEL and AML1 (respectively). The presence of this gene fusion has prognostic implications.
The translocation is not visible cytogenetically. The presence of a ETV6/RUNX1 fusion gene is associated with a good prognosis.
This is an assay for non-heritable mutations. It does not raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient.
Fluorescent in situ hybridisation (FISH) analysis, using probes to identify fusion of ETV6 with RUNX1. The breakpoints involved in these fusions can be variable, and in some cases certain variants will not be detected by the probe.
Requesting the test
This test is usually requested by a haematologist or oncologist.
0.5 mL bone marrow in transport media, or 5 mL blood in lithium heparin.
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We recommend that the patient or another adult check the labelling of request forms and sample tubes.
5 business days.
This test has a Medicare rebate which, subject to the requirements of the Medicare descriptor being met, may cover all or part of the cost.