- NGS panel and software for the testing of genes involved in homologous recombination repair (HRR) and microsatellite instability (MSI) analysis in solid tumors.
- SNV and indel detection.
- Detection of CNVs in the selected genes, as well as gains and losses across the whole genome.
- UMI molecular barcoding, which increases the sensitivity of the bioinformatic analysis.
- Bioinformatic analysis with the Datagenomics software.
- The limit of detection (LOD) for SNVs and indels is 5%.
- STIDs can be included: Integrated sample identification and tracking system.
- The coverage (with a depth >200X), sensitivity, and specificity of this test are greater than 99%. Uniformity of coverage, with 96.4% of bases covered at >20X.
- The detection limit of CNVs, with respect to the total copies of a sample, has been established at 20% when a loss occurs.
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