Real-time RT-PCR for quantitative detection of the inv(16) CBFB-MYH11 fusion transcript. Positive results are reported as ratio of the amount of fusion transcript with the amount of transcript from a normal control gene. This assay identifies type A fusions, which account for >90%. Analytical sensitivity is 1 tumor cell in 10,000 normal cells.
The inv(16) occurs in about 10% of all acute myeloid leukemia and nearly all cases of AML with eosinophilia, subtype M4eo. The inversion is generally associated with relatively good outcome. This assay is recommended for diagnostic confirmation, for monitoring minimal residual disease, and for detection of relapse. c-KIT mutation testing may be considered for inv(16)-positive AML patients as c-KIT mutations are considered an adverse risk factor in these and other patients with core-binding factor AML.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
Note: Test is RNA-based. Please select Extract & Hold – RNA if specimen hold service is desired.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.
7 days