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MPL screen

Also known as: MPL gene test

Test category:

Oncology - Myelodysplasia

Use of test

Purpose:

Mutations in the thrombopoietin receptor (MPL gene) have been described in 3-5% of patients with essential thrombocythaemia (ET) and primary myelofibrosis (PMF). The two most common MPL mutations are targeted in this test: W515K and W515L.

MPL mutations are not typically seen in patients with polycythaemia vera.

Utility:

MPL mutation testing helps to differentiate ET/PMF from a reactive process. The presence of a MPL mutation provides strong evidence for ET or PMF; the absence of a MPL mutation does not exclude a diagnosis of ET or PMF.

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:

Analysis of the sequence of the MPL gene for the presence of W515K or W515L.

Requesting the test

Ordering:

This test is usually requested by a haematologist or oncologist.

Sample required:

1.0 mL of bone marrow in dedicated EDTA or 4 mL peripheral blood in dedicated EDTA

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 containers.

>Link to Sonic Healthcare collection centres

Turnaround time:

7-10 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 73325.