The Structural Multiplex Reference Standard covers a wide range of mutations in defined genomic context. This standard is designed to challenge your molecular and bioinformatics workflow by providing validated copy number variants/ amplifications, translocations and large insertions/deletions. Additionally, you may examine the genomic context of variants within regions of specific GC-content (high vs. low). The Structural Multiplex FFPE DNA Reference Standard includes 9 digital PCR-validated variants with allelic frequencies ranging from 3.5% to 9.7% and CNVs at 4.5x and 8.5x amplification.
Highlight features of this control material include RET and ROS1 fusion variants, MYC-N and MET focal amplifications and a BRCA2 variant.
With this product you are able to:
- Evaluate workflow integrity from pre-analytical DNA extraction to post-analytical bioinformatics
- Optimize and validate the sensitivity of your workflow for structural variant detection
- Optimize and validate new cancer panels and routinely monitor the performance of your assay
Product Description: Structural Multiplex Reference Standard
Catalog Number: HD789
Genes Covered: AKT1, BRAF, BRCA2, EGFR, FBXW7, FLT3, GNA11, KRAS, MET, MYC-N, NOTCH2, PIK3CA, RET, ROS1
Fixation Method: 4% PFA (w/v)
Section Size: 15 µm
Cell Density: 3 x 108 cells per block. Approx. 3.5 x 105 cells per section
Expected DNA Yield: ≥ 400 ng DNA per section using Promega Maxwell RSC Plus FFPE DNA Extraction kit
|Variant Type||Chromosome Number||Gene||Variant||Expected Allelic Frequency, %|
|SNV High GC||chr.19||GNA11||Q209L||4.4|
|SNV High GC||chr.14||AKT1||E17K||3.5|
|SNV Low GC||chr.3||PIK3CA||E545K||4.5|
|Long Deletion||chr.7||EGFR||ΔE746 - A750||4.4|
Presence confirmed in parental cell line
|Variant Type||Chromosome Number||Gene<||Variant|
|SNV Low GC||chr.12||KRAS||G13D|
|SNV High GC||chr.9||NOTCh2||P668S|
The gDNA format of this product (HD753) has been verified by whole exome sequencing. To download the full data set, in variant caller format (VCF), please visit our exome sequencing page. This data set provides information on variants in the parental cell lines which may be detected when performing NGS analysis of this product.
Unit Size: 1 FFPE Curl
Extractable DNA: ≥ 400 ng DNA per section using Promega Maxwell RSC Plus FFPE DNA Extraction kit
Intended Use: Research Use Only
Allelic Frequency: 3.5%-9.7% and 4.5 and 8.5 copies for the CNVs
Genotype and Allelic Frequency: Droplet Digital™ PCR
DNA Integrity: Agarose gel electrophoresis
Manufacturing Quality: ISO 13485:2016
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