Use of test
Purpose:
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.
Utility:
Presence of a PDGFRB gene fusion is associated with response to targeted tyrosine kinase inhibitor therapy, for example, imatinib.
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 to identify fusion of PDGFRB with a partner gene.
Requesting the test
Ordering:
This test is usually requested by a haematologist or oncologist. It is usually requested as part of the Eosinophilia FISH panel.
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:
Up to $255.
If more information is required, the requesting clinician can call our laboratory on (07) 3377 8573.
Rebate:
This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.