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Also known as: 5q33 FISH, PDGFRB FISH

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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.

Clinical Utility

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.



Test Method

Fluorescent in situ hybridisation (FISH) analysis, using probes to identify fusion of PDGFRB with a partner gene.

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.


$205 - $255

The price varies according to the specific clinical conditions for a particular patient. Please contact Sonic Genetics on 1800 010 447 for more information.

Medicare Rebate

This test is not rebated by Medicare. The laboratory assumes that the patient or client has provided informed financial consent for the test.

Turnaround Time

2 working days.

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