Structural Multiplex Reference Standard gDNA

Format
Genomic DNA

Description

The Structural gDNA Multiplex Reference Standard provides biologically relevant quality control material, which can be used to assess the performance of NGS assays that detect complex structural variants.

With this product you can:
• Evaluate the effect of genomic context on variant detection
• Analyze the robustness of your bioinformatics pipeline
• Optimize and validate new cancer panels and routinely monitor the performance of your assay

HD753
$505.00

Availability: In stock

Dispatched within 24 hours

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Technical Information

Next generation sequencing (NGS) platforms give researchers much greater power when profiling the complex human genome. 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 NGS Reference Standard range to support the development and continued validation of Next Generation Sequencing platforms. The Structural Multiplex Reference Standard covers a wide range of mutations in defined genomic context. This standard is designed to challenge your molecular and bioinformatic work flow 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 includes 9 ddPCR-validated mutations, with most of them centered at 5% allelic frequency.

Highlight features of the Structural Multiplex include RET and ROS1 fusion variants, MYC-N and MET focal amplifications, and a BRCA2 variant.

The Structural Multiplex is also available in cfDNA (HD786) and FFPE (HD789) format.

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Technical Data

Genes Covered
AKT1, BRCA2, EGFR, FBXW7, FLT3, GNA11, KRAS, MET, MYC, NOTCH1, PIK3CA, RET, ROS1
Cosmics
1,500+
Allelic Frequencies
4.8-5.6% and 4.5 & 9.5 x amplification for the CNV
Buffer
Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.1

Product Information

Verified Mutations
Variant TypeChromosome NumberGeneVariantExpected Allelic Frequency, %
SNV High GCchr.19GNA11Q209L5.6
SNV High GCchr.14AKT1E17K5.0
SNV Low GCchr.3PIK3CAE545K5.6
Long Insertionchr.7EGFRV769_D770insASV5.6
Long Deletionchr.7EGFRΔE746 - A7505.3
Fusionchr.4:chr.6ROS1SLC34A2/ROS1 fusion5.6
Fusionchr.10RETCCDC6/RET fusion5.0
CNVchr.7METamplification4.5 copies
CNVchr.2MYC-Namplification9.5 copies
Presence confirmed in parental cell line
Variant TypeChromosome NumberGeneVariantExpected Allelic Frequency, %
SNV Low GCchr.12KRASG13D5.6
SNV High GCchr.9NOTCH1P668S5.0
Short Deletionchr.7METV237fs2.5
Short Deletionchr.13FLT3S985fs5.6
Short Deletionchr.13BRCA2A1689fs5.6
Short Deletionchr.4FBXW7G667fs5.6
SNVchr.7EGFRG719S5.3
SNVchr.7BRAFV600E18.2
SNVchr.3PIK3CAH1047R16.7
Unit Size
1µg
Concentration
50ng/µl

General Information

Storage
4˚C
Expiry
36 months from the date of manufacture

Quality Control

Allelic Frequency
Droplet Digital PCR™
Genotype
Sanger sequencing of locus specific PCR
Quality
Agarose gel electrophoresis
Quantification
Spectrophotometry (A260)
Protocols & Documents

Please browse our collection of downloads below.

If you need any support, advice or additional documentation then don't hesitate to contact us here.

Certificate of Analysis

Batch ID: gDNA-multiplex
PDF Download
Batch ID: 35078
PDF Download

Documents & Related Literature

Safety Data Sheet
PDF Download
Order & Delivery Information

Please see our terms and conditions of ordering.

If you need any support, advice or additional documentation then don't hesitate to contact us here.

Order Information

We accept orders using the following methods:

Online: 

Our online catalog and ordering system can be used to search our full menu of available HDx™ 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)

Shipping Information

Shipping information for all territories can be found on our Shipping Charges page. This includes Shipping and Handling fees, as well as shipping conditions for each product range.

If you’re having trouble ordering or finding what you’re looking for, or if you require something we don’t yet offer, please see below for more information: 

Contact Us Terms of Ordering

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