- Dynamic kit that updates the target genes of the panel according to scientific evidence.
- Detection of SNVs and INDELs.
- Analysis of fusions and rearrangements (SVs) related to targeted therapies.
- Microsatellite Instability Detection (MSI).
- Detection of CNVs of the selected genes, as well as losses and gains throughout the genome.
- Pharmacogenetic analysis associated with the response to chemotherapeutic treatments.
- Molecular marking with UMIs that increases the sensitivity of the bioinformatic analysis.
- Software de análisis incluido: Data genomics.
- STID: Integrated sample identification system for traceability.
- Coverage: 99.3% of the bases covered at a depth of 100X.
- Uniformity: 98.9% of the bases covered at> 20% of the median coverage.
- Sensitivity:> 99%.
- Specificity:> 99.9%.
- The limit of detection (LOD) for SVs, SNVs, and INDELs is 5%.
- The CNVs detection limit, with respect to the total copies of a sample, has been established at 30% when a loss occurs and at 15% for gains from a copy.
- It complies with the quality requirements specified by ISO 13845 and ISO 14001 regarding the materials used in its manufacturing process.
Action OncoKitDx employs a technology for the preparation of libraries through mechanical fragmentation and enrichment of the regions of interest by hybridization with capture probes. This technology is fully automated. Subsequently, the massive sequencing is carried out on Illumina platforms.
|Compatible sequencers||Illumina NextSeq500, Illumina NextSeq2000, Illumina HiSeq, Illumina NovaSeq|
|Number of reactions||20|
|Number of samples per run||Mid Output v2.5 kit (150 cycles): 12 samples|
High Output v2.5 kit (150 cycles): 32 samples
|Sequencing||Paired-end (2 x 75 cycles)|
|Amount of DNA per sample||50-200 ng|
|Recommended DNA quality||DIN >3|
|Genomic region analyzed||500 Kb|
|Target genes||SNVs e INDELs: AKT1*, ALK, ARID1A, ATM, ATRX, BAP1, BRAF, BRCA1, BRCA2, CDH1, CHEK2, CTNNB1, EGFR, ERBB2, ESR1, FGFR1, FGFR4, GNA11, GNAQ, H3F3A, HIST1H3B, HIST1H3H, HRAS, IDH1, IDH2, KIT, KRAS, MAP2K1, MET, MLH1, MSH2, MSH6, MTOR, MYC, NRAS, NTRK1, NTRK2, NTRK3, PALB2, PBRM1, PDGFRA, PIK3CA, PMS2 + 5’UTR, PTEN, POLD1, POLE, RET, ROS1, SDHA, SDHB, SDHD, TERT + 5’UTR, TSC1*, TSC2*, TP53 y VHL.|
* Hotspot sequencing
SVs: ALK (intron 19), ATP1B1 (introns 3 and 4), BRAF (introns 7, 8, 9 and 10), EGFR (introns 7, 23, 24 and 25), ETV6 (introns 4 and 5), FGFR2 (intron 17 and region 3’UTR), FGFR3 (intron 17 and region 3’UTR), NTRK1 (introns 8, 9, 10, 11 and 12), NTRK2 (introns 10 and 12), RET (introns 9, 10 and 11) and ROS1 (introns 31, 32, 33, 34 and 35).
|DNA from peripheral blood, fresh, frozen, and paraffinized tissue|