Produkty
Producenci
Quantitative Multiplex Reference Standard (gDNA)
Opis
Format
Genomic DNA
Description
The Quantitative Multiplex DNA Reference Standard is a highly-characterized, biologically-relevant quality control material used to assess the performance of NGS assays that detect somatic mutations.
With this product you are able to:
• Analyze the specificity of your assay
• Evaluate 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
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.
Technical Data
Genes Covered: BRAF, KIT, EGFR, KRAS, NRAS, PIK3CACosmics: 1,500+
Allelic Frequencies: 1% - 24.5% for verified variants
Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.1
Unit Size: 1µg
Concentration: 50ng/µl
General Information
Storage: 4˚C
- Expiry: 36 months from the date of manufacture
- Cell Line Background: HCT116/RKO/SW48
Quality Control
- Allelic Frequency: Droplet Digital PCR™
- Genotype: Sanger sequencing of locus specific PCR
- Quality: Agarose gel electrophoresis
- Quantification: Spectrophotometry (A260)
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 | PI3KCA | H1047R | 17.50% |
| 3q26.3 | PI3KCA | E545K | 9.00% |
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- Presence confirmed in parental cell line
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Chromosome Gene Variant Expected Allelic Frequency, % 2p23 ALK P1543S 33% 1q25.2 ABL2 P986fs 8% 5q21-q22 APC R2714C 33% 1p35.3 ARID1A P1562fs 33.50% 13q12.3 BRCA2 A1689fs 33% 13q12.3 CDX2 V306fs 41.50% 22q13.2 EP300 K291fs 8% 4q31.3 FBXW7 G667fs 33.50% 8p12 FGFR1 P150L 8.50% 13q12 FLT3 V197A 11.50% 2q33.3 IDH1 S261L 10% 7q31 MET V237fs 6.50% 3p21.3 MLH1 L323M 8.50% 17q11.2 NF1 L626fs 7.50% 22q12.2 NF2 P275fs 8% 9q34.3 NOTCH1 P668S 31.50% 1q21-q22 NTRK1 5'UTR 8.50% 4q12 PDGFRA G426D 33.50%