Next generation sequencing (NGS) platforms give researchers much greater power when profiling tumor samples. However, the use of NGS presents challenges surrounding sample variability, platform bias, and potential failure to detect biomarkers. Horizon’s standards are appropriate for any NGS library preparation including whole-genome, whole-exome, custom capture and targeted amplicon panels. Horizon has developed this Quality-Seq (Q-Seq) NGS Reference Standard range to support the development and continued validation of Next Generation Sequencing platforms. The Gene-Specific Multiplex Reference Standard portfolio covers multiple endogenous SNPs, insertions and deletions at defined allelic frequency ranges. The Gene-Specific Reference Standards cover EGFR or KRAS-specific mutations. These standards may be diluted with a matched wild type while the background mutations remain consistent. The Gene Specific Multiplex Standards are available in genomic DNA and FFPE format, which allows you to validate both the pre-analytical and analytical portion of your workflow. The FFPE format allows you to evaluate and optimize DNA extraction protocols without wasting precious patient samples. By multiplexing multiple gene-specific mutations in a single standard, the Gene-Specific Multiplex allows researchers to maximize the information obtained from their assay, and confirm that they are able to detect a range of potential mutants in a single gene.

With this product you are able to:

• Analyze the sensitivity of your assay
• Gain certainty of the limit of detection and limit of quantification
• Optimize and validate new cancer panels and routinely monitor the performance of your assay

Technical Data

Genes Covered: EGFR

Allelic Frequencies: 12.5

Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.0

Product Information

Verified Mutations: The EGFR Multiplex 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.

Presence confirmed in parental cell line

b – Variant type not called by variant caller (large insertion, CN variant, fusion, indel)

Unit Size: 1 µg

Concentration: 50 ng/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.