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PDGFRA/FIP1L1 FISH

Also known as: PDGFRA FISH, FIP1L1-PDGFRA FISH

Test category:

Oncology - Lymphoma

Use of test

Purpose:

Gene fusions involving the PDGFRA gene, typically with the FIP1L1 gene, can occur in myeloid and lymphoid neoplasms. These disorders may present as a myeloproliferative neoplasm, typically with eosinophilia. The presence of the gene fusion carries therapeutic implications.

Utility:

Presence of a PDGFRA-FIP1L1 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 PDGFRA-FIP1L1.

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:

This test has a Medicare rebate which, subject to the requirements of the Medicare descriptor being met, may cover all or part of the cost.

Rebate:

The Medicare details, including descriptor and schedule fee, are listed under MBS item 73326.