Circulating Tumor DNA (ctDNA) & Liquid Biopsy
What Is Circulating Tumor DNA (ctDNA) & Liquid Biopsy?
Circulating tumor DNA (ctDNA) sequencing is a powerful non-invasive method for detecting and analyzing fragments of tumor-derived DNA circulating in the bloodstream. This DNA originates from cancer cells undergoing apoptosis or necrosis and carries tumor-specific mutations, copy number variations, and epigenetic alterations.
Unlike tissue biopsies, which require invasive procedures and only provide a snapshot of one tumor region, liquid biopsy using ctDNA offers:
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Real-time tumor monitoring,
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Early detection of cancer,
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Assessment of tumor heterogeneity, and
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Tracking of minimal residual disease (MRD) or treatment resistance.
At AUGenomics, we leverage high-sensitivity next-generation sequencing (NGS) to analyze ctDNA from plasma-derived cell-free DNA (cfDNA) with precision. Our workflows are optimized to detect rare mutations at very low allele frequencies, making them suitable for early-stage cancer detection, therapy monitoring, and longitudinal studies.
Advantages of ctDNA & Liquid Biopsy
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Ultra-Sensitive Detection: Capable of identifying rare tumor variants at low variant allele frequencies (VAFs).
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Non-Invasive Sampling: Requires only a simple blood draw, reducing patient burden compared to tissue biopsy.
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Dynamic Tumor Monitoring: Enables longitudinal tracking of tumor evolution and therapy response.
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Comprehensive Profiling: Detects point mutations, indels, copy number variations, and methylation signatures.
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Customizable Assays: Supports both targeted gene panels and whole-genome/exome approaches.
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Low Input Compatibility: Optimized for the small quantities of cfDNA typically found in plasma samples.
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Rapid Turnaround: Standard results delivered in 2–3 weeks with expedited timelines available.
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Advanced Bioinformatics: Includes error suppression, mutation calling, and integration with clinical datasets.
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Translational & Clinical Utility: Supports biomarker discovery, clinical trials, and research on drug resistance.
ctDNA sequencing is transforming oncology research and precision medicine by enabling researchers to analyze tumors through a simple blood test. Common applications include:
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Early Cancer Detection: Identifying tumor-specific alterations before symptoms or imaging detection.
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Minimal Residual Disease (MRD) Monitoring: Detecting trace levels of tumor DNA after treatment to identify early relapse.
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Therapy Response Assessment: Tracking molecular changes in response to targeted therapies or immunotherapy.
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Resistance Mechanism Detection: Identifying mutations that drive therapy resistance.
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Tumor Heterogeneity Analysis: Capturing mutations from multiple tumor sites not represented by a single biopsy.
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Epigenetic Cancer Profiling: Exploring methylation patterns in ctDNA as biomarkers of cancer stage and prognosis.
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Clinical Trial Support: Monitoring ctDNA dynamics as endpoints for drug development.
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Liquid Biopsy Research: Advancing non-invasive cancer diagnostics and monitoring technologies.
What is ctDNA & Liquid Biopsy Used For?
ctDNA & Liquid Biopsy with AUGenomics
Sample Submission
Submit 5–10 mL of plasma collected in Streck or EDTA tubes. For EDTA tubes, separate plasma within 6 hours; Streck tubes allow up to 7 days. Store plasma at –80°C and ship on dry ice with completed submission forms. Avoid repeated freeze-thaw cycles.
Please refer to our Shipping Guidelines for project-specific guidance.
Turnaround Time
Typical turnaround for ctDNA projects is 10–14 business days from sample receipt. Expedited options are available depending on project scope and sequencing depth.
Frequently Asked Questions (FAQs)
Q: Can I use this service for early cancer detection?
A: While ctDNA can reveal early signals, its utility depends on cancer type and stage. It’s more commonly used for monitoring and recurrence detection.
Q: Do I need matched normal DNA?
A: It’s optional but recommended when distinguishing somatic mutations from germline variants.
Q: What is the difference between cfDNA and ctDNA?
A: cfDNA refers to all cell-free DNA in the bloodstream, derived from normal and tumor cells. ctDNA is the tumor-derived fraction of cfDNA, containing cancer-specific alterations.
Q: What sample type is required?
A: Plasma collected from blood samples using cfDNA-stabilizing tubes is recommended. We provide detailed collection and shipping guidelines.
Q: How many genes can be covered?
A: Panels can be customized from focused sets (e.g., hotspot oncogenes) to broad exome-scale sequencing, depending on your research goals.
Q: Is this service CLIA-certified?
A: Our current ctDNA sequencing is for research use only (RUO), but we follow strict quality standards and provide publication-ready data.
Got more questions? Contact our team and get a free consultation anytime. info@augenomics.com
Glossary of Terms
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ctDNA: Circulating tumor DNA
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MRD: Minimal Residual Disease
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Allele Frequency: The proportion of DNA molecules carrying a mutation
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Targeted Therapy: Treatment that targets specific genetic changes in cancer
