BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies

Clinical Use

Use

This test is useful for evaluating patients with chronic myelogenous leukemia (CML) and Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia (ALL) who are receiving tyrosine kinase inhibitor (TKI) therapy and are apparently failing treatment. It is the preferred initial test to identify the presence of acquired BCR::ABL1 mutations associated with TKI-resistance, providing comprehensive screening of the clinically relevant kinase domain (KD) region.

Special Instructions

Not provided.

Limitations

This assay is comprehensive for detecting BCR::ABL1 kinase domain mutations but does not detect all possible mutations in ABL1. A negative result does not exclude the presence of a rare, less-well characterized, or unknown mutation that could be associated with TKI resistance. Subclonal mutations may be difficult to identify by Sanger sequencing due to its inherent sensitivity level limitation, which is typically around 15% to 20% mutant allele in a wild-type background. The BCR::ABL1 quantitative level should be above 0.1% for successful mutation detection.

Test Details

New York Approved