Liquid Biopsy – Molecular Tumor Diagnostics from a Blood Sample
Minimally invasive. Sensitive. Precise.
Liquid biopsy is a modern diagnostic method to assess molecular tumor characteristics on tumor-derived cell-free DNA (ctDNA) circulating in the blood plasma of the patients. Though only a small portion of all DNA in the bloodstream originates from the tumor, it can be detected up to a ratio of 1:1000 to 1:10000 DNA molecules by highly sensitive methods. If no tumor tissue is available for molecular analyses or quick treatment decision is required, liquid biopsy can be used for molecular profiling – only by a minimally invasive, simple blood draw.
The molecular tumor characterization is required as “companion diagnostics” for many targeted therapies. To date, the role of liquid biopsy is investigated for stratification of immunotherapies, too. Large studies demonstrate promising results for postoperative ctDNA assessments for the detection of minimal residual disease and the stratification of adjuvant therapies. Further, liquid biopsy bears great potential for the surveillance of the course of disease during or after systemic therapies: The response to therapy, the early detection of tumor recurrence and the qualification of a patient for a rechallenge therapy becomes measurable by repeated, minimal-invasive tests.
Liquid biopsy enables an increasingly personalized tumor diagnostic and therapy and is a valuable, complementary approach to molecular tissue diagnostics. Therefore, highly sensitive and qualitative, diagnostic procedures are needed that fulfil the requirements of the Federal Chamber of Physicians (RiliBÄK) for Liquid Biopsy labs.
Clinical Benefits for Patients
- No invasive procedures –no tissue biopsy, only minimally invasive blood draw
- Faster results – analysis typically completed within a few days
- Repeatable – ideal for close-meshed treatment monitoring
- Early warning – molecular changes can be detected at early stages
Molecular Insights from Circulating Tumor DNA
Liquid biopsy allows for detailed molecular characterization of tumor diseases based on circulating tumor DNA (ctDNA) in blood plasma. Analysis is performed using highly sensitive methods such as digital PCR (dPCR) or next-generation sequencing (NGS) for tumor-informed or tumor-agnostic indications. Even minute quantities of ctDNA below 1:000 DNA molecules can be detected, providing a robust basis for diagnostic and therapeutic decisions.
Targeted Mutation Analyses:
- KRAS, NRAS, EGFR, TP53, PIK3CA, ESR1 u. a.
- High-sensitivity quantification via digital PCR
- Supports targeted therapy selection and resistance mutation detection
Extended ctDNA Panels:
- Plasma-SeqSensei™ Solid & Breast Cancer Panel (6 Gene)
- KAPA HyperPETE Panel (37 Gene)
- Detection of rare oncogenic mutations
- Applicable to solid tumors such as breast, colorectal, and lung cancers
Specialized Analyses:
- CNV diagnostics – detection of copy number variations including
- Tumor fraction estimation
Specialized Analyses: (currently in clinical studies):
- Microsatellite instability (MSI) – predictive biomarker for immunotherapy
- Methylation profiling – for epigenetic classification
Clinical Applications of Liquid Biopsy
| Application | Use Case |
| Primary Diagnosis | Complementary to tissue biopsy in diagnosed tumors |
| Therapy Selection | Choosing targeted drugs based on mutation profile, if appropriate tissue material is not available |
| Treatment Monitoring | Real-time assessment of therapeutic response (in clinical studies) |
| Recurrence Detection | Early detection of relapse or metastasis (in clinical studies) |
Why CEBIO?
CEBIO offers in-depth expertise in cell-free DNA analysis and standardized workflows for liquid biopsy diagnostics.
Molecular analysis is performed in close collaboration with the Munich Biomarker Research Center, TUM Hospital German Heart Center), part of the University Hospital of the Technical University of Munich. Their recognized expertise in circulating biomarkers and long-standing research experience in liquid biopsy ensures high analytical quality and strong clinical relevance.
CEBIO provides services throughout the whole diagnostic process, from documents and materials for informed consent and blood draw, appropriate preanalytics and high quality analytics to an informative report on ctDNA results.
Our Services at a Glance:
- High-sensitivity ctDNA analysis using NGS and dPCR
- Validated reference materials and standardized workflows
- Robust bioinformatics for reliable data interpretation
- Comprehensive diagnostic reports for clinical and research use
In Summary
Liquid biopsy provides valuable molecular insights — safely, quickly, and with minimal burden. It expands the possibilities of cancer diagnostics and supports personalized treatment planning. Thanks to our partnership with the Munich Biomarker Research Center, TUM Hospital German Heart Center, we offer testing at the highest professional standard — with clinical precision and diagnostic reliability. With CEBIO’s expertise, you gain access to precise data for confident medical decision-making — in both patient care and clinical research.
