Use of test
The identification of specific gene rearrangements in AML can have prognostic and therapeutic implications.
Relevant probes are selected from the list below as indicated to look for significant gene alterations in AML:
t(11;#)(q23;#) KMT2A (MLL) rearrangement
inv(3)(q21q26) RPN1/MECOM (EVI1)
t(3;3)(q21;q26) RPN1/MECOM (EVI1)
t(12;#)(p13;#) ETV6 rearrangement/deletion
AML with MDS related changes – see MDS panel
The laboratory will provide a clinical interpretation based on the analytical results.
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 designed to detect gene rearrangements. 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 if blasts >10%).
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.
Up to $255.
If more information is required, the requesting clinician can call our laboratory on (07) 3377 8573.
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.