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inv(16), CBFB-MYH11 Translocation

  • Molecular
This test uses 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% of fusions. Analytical sensitivity is 1 tumor cell in 10,000 normal cells.
Turnaround time
7 Days

Level of Service

  • Global
New York Approved: No

Clinical Significance

The assay detects and quantifies the CBFß (core binding factor ß chain)-MYH11 (myosin heavy chain 11 gene) fusion transcripts in bone marrow and peripheral blood in patients with acute myelomonocytic leukemia with abnormal eosinophils, M4E0.Which counts for approximately 10% of all acute myeloid leukemia (AML). Patients with inv (16) generally are associated with relatively good long-term, disease free survival. Confirmation of the diagnosis of this subtype of acute myeloid leukemia is very important due to its specific management.

In addition to confirming diagnosis, this assay is also recommended for monitoring minimal residual disease (MRD) and predicting relapse. For monitoring MRD, we recommend monitoring trends rather than the absolute ratio of a single measurement. It has been reported that the inv (16) translocation produces five types of fusion transcript (A, B, C, D and E). The type A accounts for more than 90% of cases detected. This assay detects type A fusion transcript only.

Specimen Requirements

Bone Marrow Aspirate: 2 mL in EDTA tube.
Peripheral Blood: 5 mL in EDTA tube.
Note: Test is RNA-based. Please select Extract & Hold - RNA If specimen hold service is desired.

Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible. Please select Extract & Hold - RNA if specimen hold service is desired.

CPT Code(s)*

81401

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.

Last Updated: August 27, 2025

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