Also known as: 5q33 FISH, PDGFRB FISH« Back to test list
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.
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.