Features & Specs
- Genomic DNA
- Genes Covered
- ABL1, ASXL1, BCOR, CBL, DNMT3A, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KRAS NPM1, NRAS, RUNX1, SF3B1, TET2, TP53
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Myeloid DNA Reference Standard
The Myeloid DNA Reference Standard is a well characterised, cell line derived control manufactured under ISO 13485 containing 22 variants across 19 genes relevant to myeloid cancer. This Multigene Multiplex product allows labs to perform quick, more reliable and cost-effective validation of myeloid sequencing assays – saving user time and money to achieve their quality assurance goals faster.
It contains many variants within one tube –users only handle one control sample to validate a large proportion of their targeted sequencing assay at once. Including 6 insertions/deletions (INDELs), helping users optimize their assay’s performance when sequencing challenging structural variants. Due to the importance of FLT3 internal tandem duplications (FLT3-ITDs), present in nearly 25% of patients with AML, Horizon engineered a large novel 300bp insertion into FLT3 – termed the “ITD300” variant. This is a very desirable feature of this new product, representing the types of large insertions encountered in real patient samples but very difficult to source for assay validation and optimization purposes. The Myeloid DNA Reference Standard is designed with 15 mutations present at 5% allele frequency, to support the calculation of clinically relevant LODs of somatic workflows. Also, the product contains 7 mutations at 10-70% allele frequency supporting validation of higher frequency germline workflows.