- Dynamic kit that updates the target genes included in the panel according to the latest scientific evidence.
- Detection of SNVs and INDELs.
- Analysis of gene fusions and rearrangements (SVs) associated with targeted therapies.
- Detection of microsatellite instability (MSI).
- Detection of CNVs in selected genes, as well as genomic losses and gains across the genome.
- Pharmacogenetic analysis associated with response to chemotherapeutic treatments.
- UMI-based molecular tagging, increasing the sensitivity of bioinformatic analysis.
- Included analysis software: Data genomics.
- STID: Integrated sample identification system for sample traceability.
- Coverage: 99.3% of bases covered at a depth of 100.
- Uniformity: 98.9% of bases covered at >20% of the median coverage.
- Sensitivity and specificity: > 99.9%.
- Limit of detection (LOD) for SVs, SNVs, and INDELs: 5%.
- CNV limit of detection, relative to the total copy number of a sample, established at 30% for losses and 15% for single-copy gains.
- For in vitro diagnostic use only.
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