BCR-ABL1 Mutation Analysis for Tyrosine Kinase Inhibitor Resistance by Next Generation Sequencing
Also known as: BCRABL NGS
Use
This test is performed to detect mutations in the BCR-ABL1 gene that may confer resistance to tyrosine kinase inhibitors (TKI) therapy, such as in patients with Philadelphia chromosome positive (Ph+) lymphoblastic leukemia or chronic myelogenous leukemia (CML). It is designed to detect all clinically actionable BCR-ABL1 kinase domain mutations, including the T315I mutation. The test spans ABL1 codons 46 - 542.
Special Instructions
Not provided.
Limitations
This test's NGS technology can detect substitution mutations present at frequencies as low as 5%. However, the assay's sensitivity is limited, and sequencing may not be possible in samples with low tumor burden. This test is not intended for detecting or quantifying BCR-ABL1 fusion transcripts. Results should be interpreted within the patient's clinical context and should not be used solely for a diagnosis of malignancy. The test is performed in a CLIA certified laboratory but is not FDA-cleared or approved.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
No genes
Gene
LOINC Codes
- 31208-2 - Specimen source
- 55135-8 - BCR/ABL1 kinase domain Mut Anl Bld/T
Result Turnaround Time
10-12 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
1 mL
Container
Lavender (EDTA)
Storage Instructions
Refrigerated.
Causes for Rejection
Serum or plasma. Specimens collected in anticoagulants other than EDTA. Frozen specimens. Clotted or severely hemolyzed specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 1 hour |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |
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