Omega Genetik

General — Liquid Biopsy Fundamentals

ctDNA: What Is Circulating Tumor DNA?

The cfDNA-ctDNA distinction, measurement indications (mutations, MRD, resistance) and analytical challenges.

ctDNA (circulating tumor DNA) consists of small DNA fragments released into the blood by apoptotic and necrotic tumor cells. As the molecular arm of liquid biopsy, it reflects the tumor's genetic profile non-invasively.

cfDNA vs ctDNA

  • cfDNA (cell-free DNA): all cell-derived free DNA in blood (including from healthy cells). Total DNA burden
  • ctDNA: the tumor-derived fraction of cfDNA. Between 0.01% and 50% of total cfDNA may be tumor-related

When Should ctDNA Be Measured?

  • Mutation detection: non-invasive detection of somatic mutations such as KRAS, EGFR, BRAF, TP53
  • MRD assessment: detection of minimal residual disease after surgery/chemotherapy
  • Resistance mutations: non-invasive detection of resistance mechanisms at progression
  • Tumor burden: estimation of overall tumor burden from ctDNA concentration

Analytical Challenges

  • Low ctDNA fraction: requires sensitive NGS methods (e.g. error-corrected sequencing)
  • Plasma processing speed: cfDNA degradation makes plasma separation mandatory within 2–4 hours
  • Standardization: pre-analytical variations can affect results

See our contact page for our ctDNA analysis support service.

Rx-only — prescription screening test. Galleri® is not a diagnostic test. A positive result does not mean a cancer diagnosis; a negative result does not rule out cancer. The test does not replace the routine cancer screenings recommended by your physician. Galleri® does not detect all cancers.

Get Information