Gene fusions involving the FGFR1 gene and other gene partners can occur in myeloid and lymphoid neoplasms, typically with eosinophilia. Such fusions have prognostic implications.
Presence of an FGFR1 gene fusion is typically associated with poor prognosis.
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 FGFR1 with a partner gene. The breakpoints involved in these fusions can be variable, and in some cases certain variants will not be detected by the probe.
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.
5 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. When testing occurs as part of the Eosinophilia FISH panel, a charge is applied only to PDGFRA, which is rebated by Medicare.