The Myeloid DNA Reference Standard contains a large number of variants within one tube –meaning users only need to handle one control sample in order to validate a large proportion of their targeted sequencing assay at once. This includes 6 insertions/deletions (INDELs), which can help users to optimise their assay’s performance when sequencing challenging structural variants. In particular, due to the importance of FLT3 internal tandem duplications (FLT3-ITDs), which are present in nearly 25% of patients with AML, Horizon has engineered a large novel 300bp insertion into FLT3 – which we have termed the “ITD300” variant. This is a very desirable feature of this new product, as it represents the types of large insertions that may be encountered in real patient samples but are very difficult to source for assay validation and optimisation 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. In addition, the product contains 7 mutations at 10-70% allele frequency to support the validation of higher frequency germline workflows.
|Gene||Amino Acid Change||Variant Type||Expected Variant Allele Frequency (%)|
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