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RPN1/MECOM FISH

Also known as: inv(3) FISH, RPN1-EVI1 FISH

Test category:

Oncology - Leukaemia

Use of test

Purpose:

Rearrangements of Chromosome 3 which result in fusion of the RPN1 and EVI1 (also known as MECOM) genes are found in a small number of patients with acute myeloid leukaemia (AML), or with therapy-related AML or myelodysplastic syndrome (MDS). These patients often have thrombocytosis. This gene fusion defines a specific AML subtype, and it carries prognostic implications.

Utility:

Fusion of RPN1 and EVI1 is associated with poor prognosis.

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 RPN1-EVI1 gene fusion.

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:

2 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.