SOPHiA Extended Myeloid Solution

NGS panel for the detection of SNV, InDel and CNV somatic variants using hybrid capture technology.

More detailed product information

NGS panel for detection of somatic mutations (SNV, InDel, CNV) in 30 genes associated with myelodysplastic syndromes, myeloproliferative neoplasm and leukemia.
Library preparation is based on hybridization capture technology.

The kit is validated for Illumina NGS sequencers.

The solution also includes the unique SOPHiA DDM software for secondary and tertiary analysis of the resulting NGS data.

List of genes involved: ABL1, ANKRD26, ASXL1, ASXL2, ATM, ATRX, BCOR, BCORL1, BRAF, BRCC3, CALR, CBL, CBLB, CBLC,
CCND2, CDKN2A, CEBPA, CHEK2, CREBBP, CSF3R, CSMD1, CSNK1A1, CTCF, CUX1, DDX41, DHX15, DNMT3A, ELANE, ETNK1,
ETV6, EZH2, FANCA, FANCL, FLT3, GATA1, GATA2, GNAS, GNB1, HNRNPK, HRAS, IDH1, IDH2, IKZF1, JAK1, JAK2, JAK3, KDM6A,
KIT, KMT2A, KMT2D, KRAS, LUC7L2, MECOM, MET, MPL, MYC, NF1, NOTCH1, NOTCH2, NPM1, NRAS, PAX5, PDGFRA, PHF6, PIGA,
PML, PPM1D, PTPN11, RAD21, RAF1, RB1, RBBP6, RPS19, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SETBP1, SF3B1, SH2B3,
SMC1A, SMC3, SOS1, SRP72, SRSF2, STAG1, STAG2, STAT3, STAT5B, TERC, TET, TET2, TP53, U2AF1, WT1, ZBTB7A, ZRSR2

For more information, please contact us by e-mail: diagnostika@pentagen.cz