- 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.
- Compliant with ISO 9001 and ISO 14001 quality specifications regarding manufacturing materials.
Sequencing of genes involved in homologous recombination repair (HRR) and microsatellite instability (MSI) in solid tumors.
HRR OncoKitDx employs a validated library preparation technology by enzymatic fragmentation, and enrichment of regions of interest by hybridization with capture probes. This technology is fully automated. Subsequently, massive sequencing is carried out on Illumina platforms.
- Compatible sequencing platforms: Illumina NextSeq500, Illumina NextSeq2000, Illumina HiSeq, Illumina NovaSeq
- Number of reactions: 24
- Número de muestras por run: Mid Output v2.5 kit (150 cycles): 16 samples; High Output v2.5 kit (150 cycles): 32 samples
- Sequencing: Paired-end (2 x 75 cycles)
- Amount of DNA per sample: 10-100 ng
- Sample type: DNA from peripheral blood or formalin-fixed paraffin-embedded tumor tissue.
- Recommended DNA quality: DIN >3
- Analyzed genomic region: 400 Kb
- Target genes: SNVs e INDELs: ATM, ATR, ATRX, BARD1, BLM, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, ERCC3, FAM175A (ABRAXAS1), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GEN1, HDAC2, MRE11A, NBN, PALB2, PPP2R2A, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RPA1 y WRN.
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