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Also known as: inv(16) FISH, CBFB/MYH11 FISH

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Chromosomal rearrangements affecting chromosome 16 can result in fusion of the CBFB and MYH11 genes. The CBFB-MYH11 gene fusion defines the AML subtype previously known as acute myelomonocytic leukaemia (AMML), and is often associated with abnormality of or increase in eosinophils.

This gene fusion carries prognostic implications.

Clinical Utility

Fusion of CBFB and MYH11 is associated with favourable 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.

Test Method

Fluorescent in situ hybridisation (FISH) analysis, using probes designed to detect CBFB-MYH11 gene fusion.

Test Ordering

This test is usually requested by a haematologist or oncologist.

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 also recommend that the patient or another adult check the labelling of request forms and sample tubes.



This test may have a rebate for all or part of the cost.

Medicare Rebate

This test has a Medicare rebate of $196.35, subject to the requirements of the Medicare descriptor being met. The MBS item number is 73314.

Turnaround Time

2 working days.