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ABL1 Kinase Domain Mutation Analysis
- Molecular
This test uses RT-PCR and sequencing to detect BCR-ABL1 fusion transcript mutations associated with resistance to Gleevec (imatinib) and other tyrosine kinase inhibitors.
Includes analysis of common mutations like T315I, Y253H, E255K/V, F359V/C/I, F317L/V/I/C, T315A, and V299L.
Clinical Significance
Mutations within the BCR-ABL1 kinase domain of patients with chronic myeloid leukemia or acute lymphoblastic leukemia with Philadelphia chromosome are the most commonly identified mechanism associated with resistance to kinase inhibitors. It has been reported that most patients with detectable BCR-ABL1 kinase domain mutations are imatinib resistant or resistant to other kinase inhibitors.
This assay includes analysis for T315I, the most commonly reported imatinib resistance mutation, which is also resistant to two second generation tyrosine kinase inhibitors, nilotinib and dasatinib. Failure to achieve cytogenetic response in the first 6 months of therapy in CML patients often reflects the presence of mutations or a high probability that mutations will subsequently be detected.
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. NYS clients please provide date and time of Collection. Please select Extract & Hold - RNA if specimen hold service is desired.
CPT Code(s)*
81170
*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