Use of test
Fusion of the PML and RARA defines a specific AML subtype, formerly known as acute promyelocytic leukaemia (APL or APML). This gene fusion is the result of a chromosomal translocation: t(15;17)(q24;q21). Identification of this fusion has diagnostic, prognostic and therapeutic implications.
Fusion of PML and RARA is associated with high risk of disseminated intravascular coagulation (DIC) at diagnosis, but overall good prognosis due to response to targeted therapy with ATRA.
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 designed to detect PML-RARA gene fusion.
Requesting the test
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 recommend that the patient or another adult check the labelling of request forms and sample tubes.
1-2 business days.
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.
The Medicare details, including descriptor and schedule fee, are listed under MBS item 73314.