Analysis of tumors using liquid biopsy.


  • NGS panel and analysis software to screen for the study of the main biomarkers of clinical interest in non-small cell lung cancer and other solid tumors.
  • Characterization of ctDNA obtained from a liquid biopsy sample.
  • SNV, indel, genetic fusion, and CNV detection in a single DNA sample.
  • Bioinformatic analysis with the Data Genomics software and semi-automated generation of reports, which include both functional and clinical classification of the variants.
  • Based on high sensitivity RNA-probe technology with UMI barcoding (unique molecular identifiers).
  • Mean coverage: 7300X, with mean coverage after UMI analysis: 2500X.
  • The specificity, sensitivity, and repeatability of this kit are >99% and reproducibility is >97%. Coverage (at a read depth >100X) and uniformity of bases covered at >20X is >96%.
  • Limit of detection: SNVs, indels and structural variants: 1%; CNVs: gains of 2.9 copies.
  • Compliant with ISO 9001 and ISO 14001 quality specifications regarding manufacturing materials.
  • CE-IVD-marked analysis software.

Turnaround time (TAT): 12 working days

Ref. S-202212577

Technical specifications
  • Compatible sequencers: Illumina NextSeq500/550Dx.
  • Number of reactions: 24.
  • Number of samples per run: 8 samples in a NextSeq HIGH output cartridge (150 cycles).
  • Sequencing: Paired-end (2 x 75 cycles).
  • Sample type: Circulating cell-free DNA from a liquid biopsy sample.
  • Amoung of input DNA: 10-50 ng.
  • Panel fully automated on Magnis NGS Prep System Dx.
  • CNV analysis requires that a positive control (REF: IMG-368) be used at least once.

– Sequencing of whole exonic regions of 13 genes:

  • ALK
  • BRAF
  • EGFR
  • ERBB2
  • KIT
  • KRAS
  • MAP2K1
  • MET
  • NRAS
  • PIK3CA
  • RB1
  • ROS1
  • TP53

– Sequencing of 7 hotspot regions in the NTRK1 and NTRK3 genes.

– Capture of 8 fusion genes with all possible rearrangements covered (including intronic regions with breakpoints previously reported in the literature):

  • ALK
  • EGFR
  • ETV6
  • NRG1
  • NTRK1
  • NTRK2
  • RET
  • ROS1

– Detection of CNVs across the whole genome. Validation of results and detection of copy-neutral LOH through a low-density SNP array spanning the whole genome.