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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 Quantitative Multiplex Reference Standard (QMRS) portfolio covers multiple endogenous SNPs, insertions and deletions. The QMRS includes 11 mutations at 0.8-24.5% allelic frequency in genomic DNA, FFPE and Formalin-Compromised DNA format. The multiple formats of the QMRS allow you to validate both the pre-analytical and analytical portion of your workflow using an isogenic reference standard. The FFPE format QMRS allows you to evaluate and optimize DNA extraction protocols without wasting precious patient samples. With the Formalin-Compromised format, the robustness of your NGS workflow may be tested to ensure that your library protocol and informatics pipeline can accommodate these highly degraded samples. The QMRS standard is our most popular multiplex standard as it provides both a breadth of formats, but also a large range of allelic frequencies and onco-relevant mutants.
With this product you are able to:
- Evaluate the effect of formalin on your assay
- Analyze the robustness of your workflow with multiple formats (DNA , FFPE and Formalin-Compromised DNA)
- Optimize and validate new cancer panels and routinely monitor the performance of your assay
Technical Data
Format: Formalin-Compromised DNA
Genes Covered: BRAF, KIT, EGFR, KRAS, NRAS, PIK3CA
Allelic Frequencies: 1% - 24.5%
Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.1
Product Information
Verified Mutations:
Chromosome | Gene | Variant | Expected Allelic Frequency, % |
7q34 | BRAF | V600E | 10.50% |
4q11-q12 | cKIT | D816V | 10.00% |
7p12 | EGFR | ΔE746 - A750 | 2.00% |
7p12 | EGFR | L858R | 3.00% |
7p12 | EGFR | T790M | 1.00% |
7p12 | EGFR | G719S | 24.50% |
12p12.1 | KRAS | G13D | 15.00% |
12p12.1 | KRAS | G12D | 6.00% |
1p13.2 | NRAS | Q61K | 12.50% |
3q26.3 | PIK3CA | H1047R | 17.50% |
3q26.3 | PIK3CA | E545K | 9.00% |
Presence confirmed in parental cell line
Chromosome | Gene | Variant | Expected Allelic Frequency, % |
2p23 | ALK | P1543S | 33% |
1q25.2 | ABL2 | P986fs | 8% |
5q21-q22 | APC | R2714C | 33% |
1p35.3 | ARID1A | p.M1564fs*1 | 33.50% |
13q12.3 | BRCA2 | K1691fs | 33% |
13q12.3 | CDX2 | V306fs | 41.50% |
22q13.2 | EP300 | K292fs | 8% |
4q31.3 | FBXW7 | S668fs | 33.50% |
8p12 | FGFR1 | P150L | 8.50% |
13q12 | FLT3 | V197A | 11.50% |
2q33.3 | IDH1 | S261L | 10% |
7q31 | MET | L238fs | 6.50% |
3p21.3 | MLH1 | L323M | 8.50% |
17q11.2 | NF1 | Y628fs | 7.50% |
22q12.2 | NF2 | P275fs | 8% |
9q34.3 | NOTCH1 | P668S | 31.50% |
1q21-q22 | NTRK1 | 5'UTR (1:156815754, GRCh38) | 8.50% |
4q12 | PDGFRA | G426D | 33.50% |
Unit Size: 1 µg
Concentration: 50 ng/µl
General Information
Storage: 4˚C
Expiration: See all product shelf life information
Quality Control
Allelic Frequency: Droplet Digital PCR™
Quality: TapeStation gDNA ScreenTape Assay
Quantification: Qubit dsDNA BR Assay
Intended use: For assay developers and molecular diagnostic labs for routine performance monitoring of molecular biology assays. Research use only. Not for diagnostic procedures.