BCR-ABL1 is an abnormal fusion gene formed by joining the BCR and ABL1 genes due to a translocation between chromosomes 9 and 22, known as the Philadelphia chromosome. It produces an overactive tyrosine kinase enzyme that drives the development of chronic myeloid leukemia (CML) and Ph+ acute lymphoblastic leukemia (Ph+ ALL). Detecting and monitoring BCR-ABL1 mutations is essential for diagnosis, tracking treatment response, and identifying resistance to tyrosine kinase inhibitors (TKIs), allowing timely and personalised treatment decisions.
| Assay Characteristics | NGS | Sanger Sequencing | RT-PCR |
|---|---|---|
| Throughput | High | Low | Medium |
| Sensitivity of Mutation Detection (Limit of Detection) |
>1% | >20% | >5% |
| Detection of Novel Mutations | Yes | Limited | No |
| Differentiation of Compound Mutations |
Yes | No |
| Identification of Polyclonal Mutations | Yes | No |
| Quantification of Mutation Burden | Yes | No |
TAT: 10 working days
Test Code: MGM198
Detects low-level mutations with ≥1% variant allele frequency (VAF).
Identifies known, rare, novel, and compound mutations across the BCR-ABL1 gene.
Offers superior precision compared to Sanger and PCR-based methods.
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