Mimix™ BRCA Somatic Multiplex I (FFPE) Reference Standard

The BRCA Somatic Multiplex 1 Reference Standard in FFPE format is a highly-characterized, biologically-relevant quality control material used to assess the performance of NGS assays that detect somatic mutations.

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 BRCA Somatic Multiplex 1 portfolio covers multiple endogenous SNPs, including those in difficult to sequence homopolymer regions. The BRCA Somatic Multiplex 1 Reference Standard includes 16 mutations at 7.5% - 100% allelic frequency in genomic DNA and FFPE format. The multiple formats available allow you to validate both the pre-analytical and analytical portion of your workflow using an isogenic reference standard. The FFPE format BRCA Somatic Multiplex 1 reference standard allows you to evaluate and optimize DNA extraction protocols without wasting precious patient samples. In addition, the robustness of your NGS workflow may be tested to ensure that your library protocol and informatics pipeline can accommodate degraded FFPE samples. The BRCA Somatic Multiplex 1 reference standard provides a large range of allelic frequencies in 16 onco-relevant mutations for use across multiple BRCA NGS gene panels.

With this product you are able to:

  • Evaluate workflow integrity from pre-analytical DNA extraction to post-analytical bioinformatics
  • Analyze sensitivity and specificity of your assay
  • Optimize and validate new cancer panels and routinely monitor the performance of your assay.

 

Product Information

Product Description: BRCA Somatic Multiplex Reference Standard

Catalog Number: HD810

Format: FFPE

Genes Covered: BRCA1, BRCA2, BRIP1, BARD1, NBN

Fixation Method: 4% PFA (w/v)

Section Size: 15µm

Cell Density: 3 x 108 cells per block. Approx. 3.5 x 105 cells per section

Expected DNA Yield: ≥ 400 ng using Promega Maxwell RSC Plus Extraction kit

Presence confirmed in parental cell line:

Chromosome Genomic Coordinates (GRCh37) Gene Variant Expected Allelic Frequency, % Observed by Targeted Sequencing
17 41223094 BRCA1 S1634G** 7.5 5.4
17 41244000 BRCA1 K1183R 7.5 7.1
17 41245090 BRCA1 K820E 7.5 5
17 41234451 BRCA1 R1443STOP 32.5 23.5
17 41246245 BRCA1 D435Y 7.5 6.4
17 41244936 BRCA1/td> P871L 15 13.6
13 32906480 BRCA2 N289H 7.5 6.4
13 32929387 BRCA2 V2466A 100 100
13 32911463 BRCA2 N991D 7.5 4.7
13 32913558 BRCA2 K1691fs 32.5 28.7
13 32913836 BRCA2 N1784fs 40 33.8
13 32912750 BRCA2 D1420Y 32.5 27.9
13 32937354 BRCA2 I2675fs 10 8.6
17 59763347 BRIP1 S919P 100 100
2 215645464 BARD1 R378S 42.5 Not Covered
8 90990479 NBN E185Q 60 Not Covered

** This variant is also known by its secondary transcript: p.S1613G/c.4837A>G. We may use this interchangeably across our website and resources.

The gDNA format of this product (HD795) has been verified by whole exome sequencing.

Unit Size: 1 FFPE Section

Extractable DNA: ≥ 400 ng per section using Promega Maxwell RSC Plus FFPE DNA Extraction kit

 

General Information

Allelic Frequency: 7.5%-100%

Storage: 4˚C

Shipping: Ambient

Expiry: See all product shelf life information

 

Quality Control

Genotype and Allelic Frequency: Droplet Digital PCR™

DNA Integrity: Agarose gel electrophoresis

Quantification: Quantifluor™

Manufacturing Quality: ISO 13485:2016

Intended use: For assay developers and molecular diagnostic labs for routine performance monitoring of molecular biology assays. Research use only. Not for diagnostic procedures.