Validation of a novel NGS based BCR::ABL1 kinase domain mutation detection assay in Indian cohort.

ABSTRACT: The efficacy and treatment outcome of a CML patient are heavily dependent on BCR::ABL1 kinase domain (KD) mutation status. Next-generation sequencing technology is a bright alternative to the previously used sanger sequencing method due to its global presence in diagnostic setups, massive parallel sequencing ability, and far better sensitivity. In the present study, we have demonstrated a new protocol for kinase domain mutation analysis using the next-generation sequencing (NGS) method using the ion torrent sequencing platform. This protocol uses RNA as the starting material, followed by nested PCR to amplify the fusion transcript, which is subsequently used as a template for NGS. Initial validation and comparison of this assay with the sanger sequencing (SS) method yielded 95.23% agreemen

SUBMITTER: Chaudhary P 

PROVIDER: S-EPMC11231265 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature