Home
HelpTest Code BAKDM BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies
Reporting Name
BCR/ABL1 Mutation, SequencingUseful For
Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment
Preferred initial test to identify the presence of acquired BCR::ABL1 mutations associated with TKI-resistance
Testing Algorithm
If BCR::ABL1 fusion type (p210, p190, p205 or p230) is not provided, the qualitative, diagnostic assay for BCR::ABL1 will be performed at an additional charge.
If no fusion form (p190, p205, p210, p230) is identified by qualitative testing, this test will be canceled.
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
VariesOrdering Guidance
This is the preferred initial test to identify the presence of acquired BCR/ABL1 mutations associated with tyrosine kinase inhibitor (TKI)-resistance. This is the preferred initial test to identify the presence of acquired BCR::ABL1 mutations associated with tyrosine kinase inhibitor (TKI)-resistance.
Additional testing options are available. For ordering guidance see BCR/ABL1 Ordering Guide for Blood and Bone Marrow.
Shipping Instructions
1. Refrigerated specimens must arrive within 5 days of collection, and ambient specimens must arrive within 3 days of collection.
2. Collect and package specimen as close to shipping time as possible.
Necessary Information
Pertinent clinical history including if the patient has a diagnosis of chronic myelogenous leukemia or other BCR::ABL1-positive neoplasm is required.
Specimen Required
Submit only 1 of the following specimens:
Preferred:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 10 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
3. Label specimen as blood.
Acceptable:
Specimen Type: Bone marrow
Container/Tube: Lavender top (EDTA)
Specimen Volume: 4 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Send bone marrow specimen in original tube. Do not aliquot.
3. Label specimen as bone marrow.
Specimen Minimum Volume
Blood: 8 mL; Bone marrow: 2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Refrigerated (preferred) | 5 days | PURPLE OR PINK TOP/EDTA |
| Ambient | 72 hours | PURPLE OR PINK TOP/EDTA |
Special Instructions
Reference Values
An interpretive report will be provided.
Day(s) Performed
Monday through Saturday
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81170-ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase)(eg, acquired imatinib tyrosine kinase inhibitor resistance), gene analysis, variants in the kinase domain
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| BAKDM | BCR/ABL1 Mutation, Sequencing | 55135-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| MP004 | Specimen Type | 31208-2 |
| MOFF | BCRABL Fusion (210, 190, 205, 230) | 55135-8 |
| 19824 | Final Diagnosis: | 34574-4 |
Interpretation
The presence of one or more point mutations in the translocated portion of the ABL1 region of the BCR::ABL1 fusion messenger RNA is considered a positive result, indicating tyrosine kinase inhibitor (TKI) resistance. The specific type of mutation may influence the sensitivity to a specific TKI and could be useful in guiding therapeutic options for an individual patient.
Clinical Reference
1. Hughes T, Deininger M, Hochhaus A, et al. Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: review and recommendations for harmonizing current methodology for detecting BCR-ABL transcripts and kinase domain mutations and for expressing results. Blood. 2006;108(1):28-37. doi:10.1182/blood-2006-01-0092
2. Press RD, Kamel-Reid S, Ang D. BCR-ABL1 RT-qPCR for Monitoring the Molecular Response to Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia. J Mol Diagn. 2013;15(5):565-576. doi:10.1016/j.jmoldx.2013.04.007
3. Baccarani M, Deininger MW, Rosti G, et al. European LeukemiaNet recommendations for the management of chronic myeloid leukemia: 2013. Blood. 2013;122(6):872-884. doi:10.1182/blood-2013-05-501569
4. Jones D, Kamel-Reid S, Bahler D, et al. Laboratory practice guidelines for detecting and reporting BCR-ABL drug resistance mutations in chronic myelogenous leukemia and acute lymphoblastic leukemia: a report of the Association for Molecular Pathology. J Mol Diagn. 2009;11(1):4-11. doi: 10.2353/jmoldx.2009.080095
5. Iezza M, Cortesi S, Ottaviani E, et al. Prognosis in chronic myeloid leukemia: Baseline factors, dynamic risk assessment and novel insights. Cells. 2023;12(13):1703. doi:10.3390/cells12131703
Report Available
5 to 7 daysMethod Name
Reverse Transcription Polymerase Chain Reaction (RT-PCR) with Sanger Sequencing
Forms
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| BADX | BCR/ABL1, RNA-Qual, Diagnostic | Yes | No |