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Alternative Name
Liquid Biopsy CBFB-MYH11 Fusion Testing
Test Description

Real-time RT-PCR for quantitative detection of the inv(16) CBFB-MYH11 fusion transcript using cell-free plasma DNA/RNA. This assay identifies type A fusions, which account for >90%

Clinical Significance

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. In addition, this test can be used for determining if a bone marrow biopsy is an absolute necessity. It can also be used for performing molecular studies when a bone marrow sample is inadequate (dry tap, insufficient quantity, or not viable), or not available.

Specimen Requirements
  • Peripheral blood: 2 x 6 mL EDTA tubes (total 12 mL) or 10 mL in EDTA tube.
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; specimens <72 hours old preferred.

CPT Code(s)*
Turnaround Time

7 days

Level of Service

*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.