BCR-ABL1 Kinase Domain Mutation Analysis

CPT: 81170
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Test Details

Synonyms

  • ABL1 Mutation Analysis for Resistance to Imatinib Mesylate
  • Gleevec Resistance Mutation Analysis
  • Imatinib Mesylate Resistance Analysis

Use

Mutations within the BCR-ABL1 kinase domain in imatinib-treated chronic myeloid leukemia are the main mechanism of acquired resistance. The early detection of mutations should provide clinical benefit by allowing early intervention. Candidates for the BCR-ABL1 kinase domain mutation analysis include:

• Patients who fail to respond to imatinib therapy

• Patients with significant increase in BCR-ABL1 levels as detected by the quantitative BCR-ABL1 assay

• Patients with a loss of cytogenetic or hematologic response

• Patients in accelerated phase/blast crisis

Limitations

In vitro studies indicate that this analysis has a mutation detection sensitivity of ∼20%. Mutations occurring outside of the analyzed region of the ABL kinase domain will also not be detected by this assay.

Methodology

Polymerase chain reaction (PCR); direct sequencing; capillary electrophoresis

Specimen Requirements

Specimen

Whole blood or bone marrow

Volume

3 to 5 mL whole blood or 1 to 2 mL bone marrow

Minimum Volume

2 mL whole blood or 1 mL bone marrow

Container

Lavender-top (EDTA) tube or yellow-top (ACD-A) tube

Collection

Submit at room temperature. Specimens should arrive in the laboratory within 48 hours of collection. Indicate date and time of collection on request form.

Storage Instructions

Ship at room temperature. If specimen must be stored prior to shipment, store at 2°C to 8°C.

Causes for Rejection

Specimen more than 48 hours old; clotted blood

Clinical Information

Special Instructions

Please direct any questions regarding this test to oncology customer service at 800-345-4363.

References

Branford S, Rudzki Z, Parkinson I, et al. Real-time quantitative PCR analysis can be used as a primary screen to identify patients with CML treated with imatinib who have BCR-ABL kinase domain mutations. Blood. 2004 Nov 1; 104(9):2926-2932. 15256429
Branford S, Rudzki Z, Walsh S, et al. Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-Loop) are associated with a poor prognosis. Blood. 2003 Jul 1; 102(1):276-283. 12623848
Goldman J. Monitoring minimal residual disease in BCR-ABL-positive chronic myeloid leukemia in the imatinib era. Curr Opin Hematol. 2005 Jan; 12(1):33-39. 15604889
Soverini S, Martinelli G, Rosti G, et al. ABL mutations in late chronic phase chronic myeloid leukemia patients with up-front cytogenetic resistance to imatinib are associated with a greater likelihood of progression to blast crisis and shorter survival: A study by the GIVEMA Working Party on Chronic Myeloid Leukemia. J Clin Oncol. 2005 Jun 20; 23(18):4100-4109. 15867198

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
480510 BCR-ABL1 kinase domain 480511 Result: 55135-8
480510 BCR-ABL1 kinase domain 480512 Nucleotide Change: 48004-6
480510 BCR-ABL1 kinase domain 480513 Predicted Amino Acid Change: 48005-3
480510 BCR-ABL1 kinase domain 480843 Interpretation: 50398-7
480510 BCR-ABL1 kinase domain 480844 Methodology: 49549-9
480510 BCR-ABL1 kinase domain 480515 Director Review: 72486-4
480510 BCR-ABL1 kinase domain 480846 BCR-ABL1 kinase domain N/A

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The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf