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, NOTCH1, 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
|Gene||Variant (AA)||CDS mutation||GRCh38 co-ordinates||Legacy ID||Genomic mutation ID||Expected Allelic Frequency/copy number|
|EGFR||ΔE746 - A750||c.2235_2249del||7:55174771||COSM6223||COSV51765119||4.40%|
The gDNA format of this product (HD753) has been verified by whole exome sequencing.
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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