Use of test
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.
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.
Fluorescent in situ hybridisation (FISH) analysis, using probes to identify fusion of PDGFRA-FIP1L1.
Requesting the test
This test is usually requested by a haematologist or oncologist. It is usually requested as part of the Eosinophilia FISH panel.
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.
2 business days.
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.
The Medicare details, including descriptor and schedule fee, are listed under MBS item 73326.
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