Haematology OncoKitDx

Protocol automated using Magnis NGS Prep System

Analysis of the main molecular markers related to ALL, AML, CML, MDS, MPN and other hematological neoplasms, by means of NGS sequencing

24 rxn

NGS sequencing

IMG-363

Illumina platforms

Protocol automated using Magnis NGS Prep System
  • NGS panel for the study of the the following oncohematological diseases: acute myeloid leukemia (AML), chronic myeloid leukemia (CML), myeloproliferative neoplasms (MPN), acute lymphoid leukemia (ALL), and myelodysplastic syndromes.
  • Detects SNVs, indels, genetic fusions, CNVs, and pharmacogenetic variants in 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.
  • It complies with the quality requirements specified by ISO 13845 and ISO 14001 in relation to the materials used in its manufacturing process.
  • Based on high sensitivity RNA-probe technology with UMI barcoding (unique molecular identifiers).
  • Coverage (at depth >1000x), specificity, sensitivity, repeatability, and reproducibility of this test are over 99%. The uniformity of bases covered at >20x

Haematology OncoKitDx employs fully automated library preparation technology by mechanical fragmentation and enrichment of regions of interest by hybridization with capture probes. Subsequently, massive sequencing is carried out on Illumina platforms.

Compatible sequencers: Illumina NextSeq500, Illumina HiSeq, Illumina NovaSeq
Number of reactions: 24
Number of samples per run: 8 samples in a cartridge MID 150 cycles on NextSeq.
Sequencing: Paired-end (2 x 75 cycles).
Type of sample: 50-100 ng.
Amount of input DNA: 802 Kb
Limit of detection: SNVs and Indels: 2%, CNVs: 20%, and copy losses or gains: 10%
Fully automated panel for Magnis NGS Prep System Dx equipment.
CE-IVD-marked kit and analysis software.
Genes diana 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 (e intrón 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 (región 5’UTR, intrones 1, 2 y 3), ABL2 (intrones 3, 4 y 5), BCR (intrones 6, 13, 14, 15 y 19), CBFA2T3 (intrones 10 y 11 y región 3’UTR), CBFB (intrón 5), CSF1R (intrón 11 y 13), EPOR (intrón 7 y CDS exón 8), ETV6 (intrones 2, 3, 4 y 5), FGFR1 (intrones 7, 8, 9 y 10), FUS (intrones 5, 6, 7, 8, 9, 11 y 14), JAK2 (intrones 8, 9, 10, 11, 15, 16, 17, 18 y 19), KMT2A (intrones 6, 7, 8, 9, 10, 11, 15, 22 y 29), MEF2D (intrones 5 y 6), MNX1 (intrones 1 y 2), MYH11 (intrón 7), NPM1 (intrón 4), NUP214 (intrones 1, 9, 16 y 17), NUP98 (intrones 10, 11, 12, 13 y 14), PDGFRA (intrones 11 y 12), PDGFRB (intrones 9, 10, 11 y 12), RARA (intrón 2), RBM15 (intrón 1), RUNX1 (intrón 6), SET (intrón 7), STIL (región 5’UTR), TAL1 (intrón 3) y TCF3 (intrones 13, 14, 15, 16 y 17).

Tipo de muestra ADN procedente de sangre periférica y médula ósea

Haematology OncoKitDx

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