ABL Kinase Domain Mutation

T315I, ABL Mutation, BCR/ABL1, Tyrosine Kinase Inhibitor Resistance
CAUTION: This test is not same test as Muscle-Specific Kinase (MuSK) Antibody, IgG.

Test Codes

EPIC: LAB1232159, Beaker: ABL Kinase D, Quest: 16029

Department

Send Outs

Instructions

NOTE: BCR/ABL fusion type must be provided for testing to be performed (p210, p190, p205, p230).

Specimen Collection Criteria

Collect: 5.0 mL Whole blood or 3.0 mL bone marrow in Lavender-top EDTA tubes.

After collection of the sample, draw date and time, as well as sample type, must be written on the tube and included as requested information. Ship sample immediately due to short sample stability of 72 hours. 

⁠⁠⁠⁠⁠⁠⁠If the stability of the sample cannot be determined, delay in result or cancellation of test may occur.

Physician Office/Draw Specimen Preparation

Do not centrifuge or freeze. Maintain specimens in original tube and refrigerate (2-8°C or 36-46°F). (Minimum: 3.0 mL whole blood and 1.0 mL bone marrow).

Preparation for Courier Transport

Transport: 5.0 mL whole blood or 3.0 mL bone marrow, refrigerated (2-8°C or 36-46°F). (minimum whole blood 3.0 mL; minimum bone marrow 1.0 mL)

Rejection Criteria

• Clotted.
• Specimens not collected and processed as indicated.

In-Lab Processing

Do not centrifuge or freeze. Maintain specimens in original tube and refrigerate (2-8°C or 36-46°F).

Transport: 5.0 mL whole blood or 3.0 mL bone marrow, refrigerated (2-8°C or 36-46°F). (Minimum whole blood 3.0 mL; Minimum bone marrow 1.0 mL)

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 72 hours
Refrigerated (2-8°C or 36-46°F): 72 hours
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to Quest Diagnostics, Wood Dale, IL.

Performed

Monday – Friday.
Results available in 3-7 days.

Reference Range

Not detected.

Test Methodology

Real-Time Polymerase Chain Reaction, Nested Polymerase Chain Reaction, Sequencing.

Interpretation

By report.

Clinical Utility

ABL Kinase Domain Mutation - Kinase inhibitors such as IMATINIB mesylate (ST1571;GLEEVEC) are effective in the treatment of chronic Myelogenous Leukemia (CML) by selectively inhibiting BCR-ABL fusion protein. Most patients in chronic phase maintain durable responses; however, many in blast crisis fail to respond, or relapse quickly. ABL kinase domain mutations are the most identified mechanism associated with relapse. The molecular monitoring in the first few months of therapy may play a crucial role in detecting patients at high risk of resistance to therapy. The ABL kinase mutation assay sequences exons 4-9 of ABL1 kinase and will detect all drug-resistance mutations as recommended by guidelines including G250E, Y253H, E255K/V, V299L, F311L/V/I, T315I/A, F317L/V/I/C, A337T, F359V/I/C and P465S, which will aid in the selection of the appropriate kinase inhibitor therapies.

CPT Codes

81170

Contacts

Last Updated

12/17/2025