Use of test
Purpose:
Fusion of the DEK and NUP genes defines a specific AML subtype. This gene fusion is the result of a chromosomal translocation: t(6;9)(p22;q34). Identification of this fusion has prognostic implications.
Utility:
Fusion of DEK and NUP is associated with an unfavourable prognosis in adults with AML
Ethical considerations:
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.
Methodology:
Fluorescent in situ hybridisation (FISH) analysis, using probes designed to detect DEK-NUP gene fusion. 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
Ordering:
This test is usually requested by a haematologist or oncologist.
Sample required:
0.5 mL bone marrow in transport media (or 10 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.
Turnaround time:
5 business days.
Price:
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.
Rebate:
The Medicare details, including descriptor and schedule fee, are listed under MBS item 73314.