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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 and is CE IVD certified.
The solution also includes the unique SOPHiA DDM software for secondary and tertiary analysis of the resulting NGS data.
List of covered genes: ABL1 (4-9), ASXL1 (10,12,13), BRAF (15), CALR (9), CBL (8,9), CEBPA (all), CSF3R(all), DNMT3A (all), ETV6 (all), EZH2 (all),
FLT3 (13-15,20), HRAS (2,3), IDH1 (4), IDH2(4), JAK2 (all), KIT (2,8-11,13,17,18), KRAS (2,3), MPL (10), NPM1 (10,11), NRAS (2,3), PTPN11 (3,7-13), RUNX1 (all), SETBP1 (4), SF3B1 (10-16), SRSF2 (1), TET2 (all), TP53 (all), U2AF1 (2,6), WT1 (6-10), ZRSR2 (all)
For more information, please contact us by e-mail: diagnostika@pentagen.cz