AGTC Genomics

Liquid Biopsy Sequencing

Combining the rapid turnaround time needed for clinical and diagnostic applications with the power of scale and sequence data delivery, our Liquid Biopsy capabilities open up new opportunities for cancer precision medicine research. From a single sample we can provide both ultra-low pass WGS data and both germline and somatic whole exome sequence data.


Liquid biopsies hold the promise of providing noninvasive, cost-effective and rapid evaluation of circulating tumor DNA (ctDNA) cancer biomarkers. Our TSO500 ctDNA NGS service provides high sensitivity detection of genomic variants across 523 DNA genes in various cancer indications from liquid biopsy plasma samples, including microsatellite instability (MSI) and tumor mutational burden (TMB) single nucleotide variants (SNVs), insertions/deletions (InDels), copy number variants (CNVs), gene rearrangements, Tumor Mutation Burden (TMB), and Microsatellite Instability (MSI) to provide pan-cancer genomic and immuno-oncology biomarker evaluation.

Key Features and Benefits

Our TSO500 NGS services provide pan-cancer genomic biomarker analysis to enable:

  • Discovery and verification of the presence of genomic biomarker targets and signatures in liquid biopsy ctDNA
  • Gain insights into the concordance between liquid biopsy and solid tumor cancer matched patient samples
  • Determine TMB and MSI biomarker signatures that facilitate evaluation of potential immunotherapy response
  • Streamline interpretation of clinically relevant genomic variants with an annotated TSO500 PDF report from PierianDx

What’s Included

  • Sample Receipt and Initial QC
  • Library Construction and QC
  • Sequencing and Data Delivery
  • Bioinformatics Analysis
  • PDF report from PierianDx™

Input Requirements

  • Blood collection tubes should be EDTA or Streck tubes, no Heparin tubes allowed
  • Plasma samples should be collected and separated within 2 hours of collection if possible as longer times impact degradation and downstream sequencing success
  • Double spun plasma is also acceptable
  • 1 – 2 mL plasma frozen at -80°C with no signs of hemolysis
  • ctDNA Input: >30 ng in 50 ul volume

Data Deliverable

  • DNA Results
    • Small variants VCF
    • Annotated merged variants JSON
      CNV VCF
    • TMB trace TSV
    • QC and metric files
  • Metrics report TSV