- NGS panel for the study of the main clinically relevant biomarkers for the most common solid tumors in adults.
- It allows detecting SNVs, indels, genetic fusions, CNVs, pharmacogenetic variants, and microsatellite instability analysis (MSI) from a single DNA sample.
- Bioinformatics analysis with the Datagenomics software and semiautomated generation of reports, including functional and clinical classification of the identified variants.
- STIDs can be included: Integrated sample identification and tracking system.
- Based on high sensitivity RNA-probe technology with UMI barcoding (unique molecular identifiers).
- Mean coverage: 2500X and mean coverage after UMI analysis: 1600X.
- MCoverage (at depth >100x), specificity, sensitivity, repeatability, and reproducibility of this test are over 99%. The uniformity of bases covered at >20x is 98.8%.
- Technical support starting with the implementation of the first protocol, available both online and on-site. All protocols will be set up in collaboration with your laboratory personnel..
- STID: Clinical support and genetic counseling. Our team of specialists can help you with any query you may have regarding cancer genetics.
- Possibility of sending 10% of your samples to our laboratory at no additional cost during periods of excessive laboratory workload or urgent deadlines.
- Possibility of handling your projects as service at Health in Code laboratories (TAT: 10 working days).
Action OncoKitDx uses a technology for library preparation by mechanical 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 NextSeq 500/550/550Dx|
|Number of reactions:||24|
|Number of samples per run:||8 to 12 samples in a cartridge MID 150 cycles on NextSeq|
|Sequencing:||Paired-end (2 x 75 cycles)|
|Sample type:||DNA from peripheral blood and fresh, frozen, and paraffin-embedded tissue|
|Amount of input DNA||50-200 ng|
|Limit of detection||SNVs, indels, and structural variants: 5%; CNVs: 3 copies for duplications and 1 copy for deletions in samples with non-tumoral cell infiltration over 30%||Fully automated panel for Magnis NGS Prep System Dx equipment||CE-IVD-marked kit and analysis software|
|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.
* Secuenciación de hotspot
SVs: ALK (intrón 19), ATP1B1 (intrones 3 y 4), BRAF (intrones 7, 8, 9 y 10), EGFR (intrones 7, 23, 24 y 25), ETV6 (intrones 4 y 5), FGFR2 (intrón 17 y región 3’UTR), FGFR3 (intrón 17 y región 3’UTR), NTRK1 (intrones 8, 9, 10, 11 y 12), NTRK2 (intrones 12 y 15), RET (intrones 9, 10 y 11) y ROS1 (intrones 31, 32, 33, 34 y 35).
|DNA from peripheral blood, fresh, frozen and paraffin-embedded tissue|