ABL1 Kinase Domain Mutation Analysis
- .To evaluate the basis for resistance (primary or acquired) to tyrosine kinase inhibitors (TKIs) in patients with Philadelphia-chromosome positive leukemias such as CML and B-ALL
- Progression to accelerated phase or blast phase in CML patients.
The presence of point mutations in the ABL1 kinase domain of the BCR-ABL1 fusion gene (codons 221-500) is assessed by direct Sanger sequencing of the BCR-ABL1 fusion transcripts following nested PCR.
The result will include the codon number, amino acid changes and relative abundance of the mutation(s) found. This test will detect mutated transcript that comprise at least 10% of total BCR-ABL1 fusion transcripts in sample.
- 10 mls peripheral blood (PB) in purple top tube (EDTA Vacutainer), sent on wet ice
- 2-5 ml of bone marrow aspirate (BM), sent on wet ice
- 20 µg of purified RNA, sent on dry ice
- 10 µg of cDNA, sent on dry ice
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