BRCA Germline I Reference Standard gDNA

Format
Genomic DNA

Description
The BRCA Germline I Reference Standard is a highly-characterized, biologically-relevant quality control material used to assess the performance of NGS assays that detect germline mutations.
With this product you are able to:
• Analyze the specificity and specificity of your assay
• Optimize and validate new cancer panels and routinely monitor the performance of your assay
HD793
$135.00

Availability: In stock

Dispatched within 24 hours

Bulk order discount
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Technical Information
BRCA Germline

Technical Data

Genes Covered
BRCA1, BRCA2, BRIP1, BARD1 and NBN
Cosmics
15
Allelic Frequencies
0, 50 and 100%
Buffer
Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.1

Product Information

Presence confirmed in parental cell line
ChromosomeGenomic CoordinatesGeneVariantExpected Allelic Frequency, %Observed with Exome Data AF%
1741223094BRCA1S1613G5056.48
1741244000BRCA1K1183R5053.96
1741245090BRCA1K820E5050.8
1741234451BRCA1R1443STOP00
1741246245BRCA1D435Y5045.35
1741244936BRCA1P871L100100
1332906480BRCA2N289H5061.29
1332929387BRCA2V2466A100100
1332911463BRCA2N991D5041.18
1332913558BRCA2K1691fs00
1332913836BRCA2N1784fs5052
1332912750BRCA2D1420Y00
1332937354BRCA2I2675fs00
1759763347BRIP1S919P100100
2215645464BARD1R378S00
890990479NBNE185Q5050
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
PDF Download
Batch ID: 34205
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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