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Updated: Jul 16, 2026
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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
Published on: June 8, 2019
Analytical Performance of the Avida Duo Assay for Simultaneous Mutation and Methylation Profiling in Circulating
Russell J Diefenbach1,2, Ashleigh Stewart1,2, Wei Yen Chan1,2
1Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney 2109, Australia.
Cancers
|July 15, 2026
Summary
This study introduces the Agilent Avida Duo system for analyzing circulating cell-free DNA (cfDNA). It enables simultaneous detection of tumor mutations and DNA methylation, improving minimally invasive cancer profiling.
Area of Science:
- Oncology
- Genomics
- Molecular Diagnostics
Background:
- Circulating cell-free DNA (cfDNA) offers minimally invasive tumor profiling.
- Simultaneous analysis of cfDNA mutations and methylation is challenging due to assay complexity and input limitations.
Purpose of the Study:
- To evaluate the Agilent Avida Duo system for integrated cfDNA mutation and methylation analysis.
- To assess the system's performance in detecting tumor-associated genomic alterations in melanoma patients.
Main Methods:
- The Agilent Avida Duo system was used for a single workflow integrating high-sensitivity mutation detection and targeted DNA methylation analysis.
- Twenty-one stage III and IV melanoma patient samples were analyzed.
- Optimized cfDNA quantification and reduced amplification cycles improved library consistency.
Main Results:
- The Avida Duo mutation assay detected mutant allele frequencies (MAFs) as low as 0.05% and identified mutations in all melanoma patients.
- Tumor-associated mutations were found in GC-rich regions, including the TERT promoter.
- Methylation profiling showed high concordance with existing methods, with cfDNA methylation fractions ranging from 0.051-0.249.
Conclusions:
- The Avida Duo workflow enables simultaneous, high-resolution detection of mutation and methylation profiles from a single cfDNA sample.
- This streamlined approach enhances molecular insight for clinical and translational applications in oncology.
