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DEK/NUP FISH

Also known as: t(6;9) FISH

Test category:

Oncology - Leukaemia

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.

Click here for our billing policy.