ABL1 Kinase Domain Mutation Analysis
Sequencing
Indication
- To evaluate the basis for resistance (primary or acquired) to tyrosine kinase inhibitors (TKIs) in patients with Philadelphia-chromosome positive leukemias such as chronic myelogenous leukemia (CML) and B-acute lymphoblastic leukemia/lymphoma (B-ALL)
- Progression to accelerated phase or blast phase in CML patients.
Methodology
RNA is extracted from white blood cells in bone marrow, and/or peripheral blood and reverse transcribed to cDNA. Multiplex long-range PCR was performed to amplify BCR::ABL1 fusion transcripts. Libraries were prepared using the Illumina DNA preparation kit for multiplex sequencing on the MiSeq. NGS data was compared to previously derived clinical Pyrosequencing and Sanger sequencing results for assay validation.
Test Parameters
The result will include the codon number, amino acid changes and relative abundance of the mutation(s) found. A minimum of 100 BCR::ABL1
fusion copies are required to detect mutated transcript that comprise at least 5% of total BCR::ABL1 fusion transcripts in sample.
Turnaround Time
10 days
Sample Requirements
- 10 mls peripheral blood (PB) in purple-top (lavender top) (EDTA Vacutainer), sent on wet ice
or
- 2-5 ml of bone marrow aspirate (BM), sent on wet ice
CPT Codes
81170
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.