- Dynamic kit that updates the target genes of the panel according to scientific evidence.
- Detection of SNVs and INDELs.
- It allows the detection of internal tandem duplications (ITDs) in FLT3, present in 20-27% of AMLs.
- Analysis of fusions and rearrangements (SVs) related to targeted therapies and the diagnosis of entities recognized by the WHO.
- Detection of CNVs of the selected genes, as well as losses and gains throughout the genome, allowing the detection of alterations such as hypo and hyperploidies, gains or losses of complete chromosomes (+8, -7, -17) or of chromosomal regions (5q, 7q, 11q), for example.
- Analysis of pharmacogenetics associated with the response to chemotherapy treatments and that offers an optional guide for dose adjustment in each case.
- 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: 96.3% of the bases covered at a depth of 100X.
- Uniformity: 98.4% of the bases covered at> 20% of the mean coverage.
- Sensitivity:> 99%.
- Specificity:> 99%.
- The limit of detection (LOD) for SVs, SNVs, and INDELs is 2%.
- The detection limit of the CNVs, with respect to the total copies of a sample, has been established at 20% when a loss occurs and 10% for gains from a copy.
- It complies with the quality requirements specified by ISO 9001 and ISO 14001 regarding the materials used in its manufacturing process.
Haematology OncoKitDx emplea una tecnología de preparación de librerías totalmente automatizada mediante fragmentación mecánica y de enriquecimiento de las regiones de interés mediante hibridación con sondas de captura. Subsequently, the massive sequencing is carried out on Illumina platforms.
|Compatible sequencers||Illumina NextSeq500, Illumina NextSeq2000, Illumina HiSeq, Illumina NovaSeq|
|Number of reactions||24|
|Number of samples per run||Mid Output v2.5 kit (150 cycles): 8 samples|
High Output V2.5 Kit (150 cycles): 24 samples
|Sequencing||Paired-end (2 x 75 cycles)|
|Amount of DNA per sample||50-100 ng|
|Genomic region analyzed||802 Kb|
|Target genes||SNVs e INDELs: ARID5B, ASXL1, ASXL2, ATRX, BCOR, BCORL1, BLNK, BRAF, CALR, CBL, CDKN2A, CDKN2B, CEBPA, CHIC2, CREBBP, CRLF2, CSF3R, CSNK1A1, CUX1, DDX3X, DDX41, DNMT3A, EP300, ETNK1, ETV6, EZH2, FBXW7, FLT3, GATA1, GATA2 (and intron 4), GATA3, HAVCR2, IDH1, IDH2, IKZF1, IL7R, JAK1, JAK2, JAK3, KIT, KMT2A, KMT2C, KRAS, MPL, NF1, NFE2, NOTCH1, NPM1, NR3C1, NRAS, P2RY8, PAX5, PHF6, PIGA, PPM1D, PTEN, PTK2B, PTPN11, RAD21, RB1, RUNX1, SETBP1, SF3B1, SH2B3, SMC1A, SMC3, SRP72, SRSF2, STAG1, STAG2, STAT5B, TET2, TP53, TYK2, U2AF1, WT1, ZRSR2.|
SVs: ABL1 (region 5’UTR, introns 1, 2 and 3), ABL2 (introns 3, 4 and 5), BCR (introns 6, 13, 14, 15 and 19), CBFA2T3 (introns 10 and 11 and region 3’UTR), CBFB (intron 5), CSF1R (intron 11 and 13), EPOR (intron 7 and CDS exon 8), ETV6 (introns 2, 3, 4 and 5), FGFR1 (introns7, 8, 9 and 10), FUS (introns 5, 6, 7, 8, 9, 11 and 14), JAK2 (introns 8, 9, 10, 11, 15, 16, 17, 18 and 19), KMT2A (introns 6, 7, 8, 9, 10, 11, 15, 22 and 29), MEF2D (introns 5 and 6), MNX1 (introns 1 and 2), MYH11 (intron 7), NPM1 (intron 4), NUP214 (introns 1, 9, 16 and 17), NUP98 (introns 10, 11, 12, 13 and 14), PDGFRA (introns 11 and 12), PDGFRB (introns 9, 10, 11 and 12), RARA (intron 2), RBM15 (intron 1), RUNX1 (intron 6), SET (intron 7), STIL (region 5’UTR), TAL1 (intron 3) and TCF3 (introns 13, 14, 15, 16 and 17).
|Type of sample||DNA from peripheral blood and bone marrow|