In current clinical practice, cancer tissue biopsies are used to analyze genetic mutations. However, this approach has limitation such as side effects, costs, and difficulties in repeating the procedure multiple times. An alternative approach, liquid biopsy, analyzes genetic mutations in body fluids like blood. This method is simpler, repeatable, and can overcome the problem of tumor heterogeneity. Liquid biopsy can complement or even replace conventional tissue biopsies for clinical effectiveness. The effectiveness of liquid biopsy has been proven and there is a growing demand for it worldwide.

A test panel was created for comprehensive genome profiling consisting of 118 genes frequently observed in all solid tumors. This panel includes analysis of single nucleotide variation, insertion/deletion, and copy number alteration (42 genes), fusion (10 genes), microsatellite instability, tumor mutation burden, and mutations in homologous recombination repair gene (15 genes). This panel can be used to analyze cerebrospinal fluid, pleural effusion, ascites as well as blood in the body.

This testing can achieve an average untique molecule depth of 9,000X and provide 0.1% at 95% performance in detecting single nucleotide variation and insertions/deletions. It can also detect copy number alterations at 2.4 copies at 99%, fusion mutations at 0.2% at 95%, and microsatellite instability mutations at 1%. As a result of this performance, tissue concordance rate has been achieved at 97.6%. Additionally, results of tumor mutation burden and homologous recombination repair gene mutation analysis are provided.