Use of test
Gene fusions involving the PDGFRB gene and a number of other gene partners occur in some patients with myeloproliferative neoplasms, typically with eosinophilia. This gene fusion has diagnostic and therapeutic implications.
Presence of a PDGFRB 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 PDGFRB with a partner gene.
Requesting the test
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.
Up to $255.
If more information is required, the requesting clinician can call our laboratory on (07) 3377 8573.
This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.