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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 optimize 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 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. In addition, the product contains 7 mutations at 10-70% allele frequency to support the validation of higher frequency germline workflows.
Technical Data
Format: Genomic DNA
Genes Covered: ABL1, ASXL1, BCOR, CBL, DNMT3A, EZH2, FLT3, GATA1, GATA2, IDH1, IDH2, JAK2, KRAS NPM1, NRAS, RUNX1, SF3B1, TET2, TP53
Allelic Frequencies: 5 - 70%
Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.0
Product Information
Verified Mutations: The Myeloid Reference Standard has been manufactured using multiple engineered cell lines and mixed to generate multiple Allelic Frequencies in multiplex. An example of the allelic frequency by whole-exome sequencing for one batch of this product is reported in the table below.
| Gene | Variant (AA) | CDS mutation | GRCh38 co-ordinates | Expected allelic frequency (%) | NGS allelic frequency (%) | NGS read depth |
|---|---|---|---|---|---|---|
| ABL1 | T315I | c.1001C>T | 9:130872896 | 5.00% | 5.23% | 459 |
| ASXL1 | G646Wfs*12 | c.1934dup | 20:32434638 | 40.00% | 39.66% | 348 |
| ASXL1 | W796C | c.2388G>T | 20:32435100 | 5.00% | 5.36% | 522 |
| BCOR | Q1208Tfs*8 | c.3621dup | X:40063833 | 70.00% | 68.44% | 358 |
| CBL | S403F | c.1208C>T | 11:119278278 | 5.00% | 5.62% | 1334 |
| DNMT3A | R882C | c.2644C>T | 2:25234374 | 5.00% | 6.26% | 495 |
| EZH2 | R418Q | c.1253G>A | 7:148817379 | 5.00% | 4.76% | 714 |
| FLT3 | D835Y | c.2503G>T | 13:28018505 | 5.00% | 4.71% | 700 |
| FLT3 | ITD300 | N/A | 13:28033909 | 5.00% | b | b |
| GATA1 | Q119* | c.355C>T | X:48791978 | 10.00% | 8.05% | 298 |
| GATA2 | G200Vfs*18 | c.599del | 3:128485998 | 35.00% | 30.27% | 403 |
| IDH1 | R132C | c.394C>T | 2:208248389 | 5.00% | 4.42% | 453 |
| IDH2 | R172K | c.515G>A | 15:90088606 | 5.00% | 2.62% | 535 |
| JAK2 | F537-K539>L | c.1611_1616del | 9:5070021 | 5.00% | 4.01% | 1147 |
| JAK2 | V617F | c.1849G>T | 9:5073770 | 5.00% | 4.19% | 1002 |
| KRAS | G13D | c.38G>A | 12:25245347 | 40.00% | 36.04% | 419 |
| NPM1 | W288Cfs*12 | c.860_863dup | 5:171410539 | 5.00% | 3.89% | 823 |
| NRAS | Q61L | c.182A>T | 1:114713908 | 10.00% | 9.40% | 628 |
| RUNX1 | M267I | c.801G>A | 21:34834414 | 35.00% | 29.90% | 194 |
| SF3B1 | G740E | c.2219G>A | 2:197401989 | 5.00% | 3.14% | 574 |
| TET2 | R1261H | c.3782G>A | 4:105243757 | 5.00% | 4.94% | 445 |
| TP53 | S241F | c.722C>T | 17:7674241 | 5.00% | 5.82% | 378 |
b – Variant type not called by variant caller (large insertion, CN variant, fusion, indel)
Unit Size: 500ng
Concentration: 25ng/µl
Exome sequencing data: Download additional information on all exonic variants present in this product. Please note: this NGS data is not batch specific.
General Information
Storage: 4˚C
Expiry: See all product shelf life information
Quality Control
Allelic Frequency: Droplet Digital PCR™
Genotype: Sanger sequencing of locus specific PCR
Quality: Agarose gel electrophoresis
Quantification: Spectrophotometry (A260)
Intended use: For assay developers and molecular diagnostic labs for routine performance monitoring of molecular biology assays. Research use only. Not for diagnostic procedures.