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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.
We accept orders using the following methods.
Online
Our online catalog and ordering system can be used to search our full menu of available Reference Standards. Select your desired reference standards and add them to the shopping basket. Your order can be submitted instantly using credit card, telephone ordering or a purchase order number as the preferred payment method.
Offline
If you prefer to send us orders outside our online ordering system, please see the Contact Us page for telephone, fax, and email details in order to place an order. We recommend that you use our online system to identify the products you require and their respective “HD” product codes.
To order offline we will require the following information:
- Product code(s) of the item(s) you wish to order (e.g. "HD123")
- Your name, email address, title and organization
- Shipping address and billing address with contact names
- Purchase Order number if you have one
- Telephone number
- VAT Number (European Countries only)
If you’re having trouble ordering or finding what you’re looking for, or if you require something we don’t yet offer, please contact us.