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CML is caused by a translocation between the long arms of chromosomes 9 and 22 (Philadelphia Chromosome), resulting in a hybrid gene, ABL. ABL encodes a fusion protein with tyrosine kinase activity, leading to uncontrolled cell growth. Imatinib mesylate (Gleevec®), is used as the first-line treatment of CML. Imatinib selectively targets and inhibits the ABL fusion protein that results from the gene rearrangement. Ninety-five percent (95%) of CML patients treated with imatinib achieve complete hematologic response. However, a subset of these patients acquires secondary resistance to imatinib, leading to clinical relapse. Mutations in the ABL fusion gene are the most commonly reported mechanism of acquired resistance to imatinib. In the presence of rapidly rising ABL levels, monitoring patients for ABL mutations may help clinicians tailor specific therapeutic options.

The molecular diagnostic procedure incorporates PCR amplification and bidirectional gene sequencing of the entire ABL tyrosine kinase domain. Mutation-positive specimens are confirmed by repeat sequencing of the tumor sample.

This test is intended for patients with CML who have a detectable level of the ABL major breakpoint (e13a2, e14a2) transcripts (relative to a standard curve). Please Note: This assay does not detect mutations in patients with e1 breakpoints. The sequencing assay is sensitive for the detection of a mutation present in at least 20% of cells.

Information Sheet - ABL Kinase Mutation Analysis (PDF)

CPT Codes:

83891(1), 83902(1), 83892(2), 83898(6), 83909(2), 83904(2), 83912(1)

1. Peripheral Blood
   • 10-20 ml in EDTA (lavender-top) tube or ACD-A (yellow-top) tube.
   • Refrigerate specimen. Do not freeze. Use cold pack for transport. Be sure cold pack is not in direct contact with
   • specimen during transport.
   • For optimal results, specimens should be submitted within 24 hours of collection from the patient.
2. Bone Marrow Aspirate
   • 2-3 ml in EDTA (lavender-top) tube or ACD-A (yellow-top) tube.
   • Refrigerate specimen. Do not freeze. Use cold pack for transport. Be sure cold pack is not in direct contact with
   • specimen during transport.
   • For optimal results, specimens should be submitted within 24 hours of collection from the patient.

Turnaround Time:

7-10 days

Client Services: Oncology/Pathology   800-447-5816

Specimen Services/Pickup:  877-246-1226