Validation and clinical evaluation of a comprehensive circulating tumor DNA assay for genomic profiling in solid tumors.

ABSTRACT:

Background

Since 2023, the Department of Pathology at Vienna General Hospital has implemented comprehensive genomic profiling (CGP) of circulating tumor DNA (ctDNA) using the AmoyDx^® Comprehensive Assay. Initially intended for cases where tissue biopsy was unfeasible, this study summarizes our experience including analytical validation, biomarker yield, and retrospective clinical utility of this assay.

Methods

Analytical validation was performed using commercial reference standards with variant allele frequencies between 0% and 5%. Cell-free DNA (cfDNA) was extracted from routine plasma samples and analyzed according to the manufacturer's protocol and optimized filtering thresholds. A total of 559 samples from 501 patients were included in the biomarker yield anal

SUBMITTER: Schopfer L 

PROVIDER: S-EPMC12798125 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature