Liquid Biopsy

Dying cells often release fragments of their genome into the blood stream. These DNA fragments are called cellfree DNA (cfDNA). Liquid biopsy is a non-invasive method used to obtain these fragments. It describes the procedure using a blood sample for cfDNA isolation.

Using modern, highly sensitive molecular genetic methods, cfDNA can be studied either for diagnostic purpose or to monitor the progression of a disease.
Sequencing-based approaches allow the detection of specific mutations, i.e. tumor-specific mutations. Consequently specific treatments can be derived.

In addition to an initial diagnosis, the analysis of cfDNA also opens up the possibility of closely monitoring a disease either by a sequencing approach or by using digital PCR.

Pioneering investigations show that in many cases the progress or the recurrence of a tumor can be detected at very early stages, by using liquid biopsy  approaches. This makes cfDNA-based tests a promising addition to the imaging methods and tumor marker studies currently available.

Dedicated support – high quality results

When processing your sequencing order, we focus on delivering results with high quality and reliability. Each project is led by a scientific project manager, who will be your contact person during the entire project phase. Upon completion of your project, you will receive a detailed project report with further information regarding sample QC, important laboratory parameters and bioinformatic evaluation and explanations.

Liquid biopsy at a glance

  • Extraction of cfDNA from plasma
  • cfDNA analysis by sequencing and Digital PCR
    available
  • Target-enrichment using Agilent Human All Exon or
    any other CeGaT customized panel
  • Sequencing on Illumina state-of-the-art sequencers
  • Adapted sequencing output depending on chosen
    enrichment
  • Large variety of bioinformatic analysis options
  • Turnaround time 3-6 weeks
  • Detailed project reporting
  • Custom assay design for rare event detection of
    cancer gene mutation and copy number variation

Start your project now

Please do not hesitate to contact us – we are happy to design an individual concept for your project.

If possible please provide us with information about sample material, number of samples and preferred sequencing depth.

Sample requirements

For sequencing approach:

  • 5-20 ml plasma for cfDNA isolation or
  • Already isolated cfDNA:
    • Input DNA: ≥ 100 ng cfDNA
    • DNA volume: ≥ 10 μL

For digital PCR approach:

  • 5-20 ml plasma or
  • Already isolated cfDNA:
    • Input DNA: ≥ 75 ng cfDNA
    • DNA volume: ≥ 10 μL

cfDNA isolation from Streck® tubes possible

Bioinformatics

Data transfer via download (secure server) or shipping
of HDD available.
For sequencing approach
• Alignment
• SNP calling and annotation
• InDel calling and annotation
• Cancer somatic mutation analysis (paired tumor/
normal samples required)
• Variant comparison (multiple samples required)
• Gene comparison (multiple samples required)
For dPCR approach
• Alignment

QC standards

• Sequencing exceeds Illumina specifications: Q30 > 80 %
• Diagnostic grade quality management routines available