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Gene fusions involving the PDGFRA gene, typically with the FIP1L1 gene, can occur in myeloid and lymphoid neoplasms. These disorders may present as a myeloproliferative neoplasm, typically with eosinophilia. The presence of the gene fusion carries therapeutic implications.

Clinical Utility

Presence of a PDGFRA-FIP1L1 gene fusion is associated with response to targeted tyrosine kinase inhibitor therapy, for example, imatinib.

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 to identify fusion of PDGFRA-FIP1L1.

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 73326.

Turnaround Time

2 working days.