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HelpTest Code BAKDM BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies
Reporting Name
BCR/ABL1 Mutation, SequencingPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful 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
Method Name
Reverse Transcription Polymerase Chain Reaction (RT-PCR) with Sanger Sequencing
Ordering 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 Type
VariesSpecimen 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 |
Reject Due To
| Gross hemolysis | Reject |
| Moderately to severely clotted | Reject |
Reference Values
An interpretive report will be provided.
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.
Day(s) Performed
Monday through Saturday
Report Available
5 to 7 daysTest 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 |
Forms
1. Hematopathology Patient Information (T676)
2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request (T726) with the specimen.
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.
Special Instructions
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| BADX | BCR/ABL1, RNA-Qual, Diagnostic | Yes | No |