- Revvity Mimix遺伝子解析用標準サンプル
- Mimix™ Tru-Q 7 (1.3% Tier) Reference Standard
Mimix™ Tru-Q 7 (1.3% Tier) Reference Standard
The Tru-Q DNA Reference Standards are a highly-characterized, biologically-relevant quality control material used to assess the performance of NGS assays that detect somatic mutations. The specifications of some variants within the Tru-Q product line have been changed for batches manufactured after the 31st March 2021. For more information, please click here.
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 Tru-Q DNA Reference Standard portfolio covers multiple endogenous SNPs, insertions and deletions. Tru-Q NGS DNA Reference Standard 1 (5% Tier) covers 10 mutations at 5% allelic frequency in genomic DNA format. These may be diluted to even lower allelic frequencies using our Tru-Q 0 Wild Type standard. Furthermore, because the Tru-Q series has 4 different standards at the 5% alleleic frequency range, you may use rotate these as “blinded” samples for proficiency testing in your laboratory. These standards are available only in gDNA format.
With this product you are able to:
- Analyze the sensitivity and specificity of your assay
- Gain certainty of the limit of detection and limit of quantification
- Optimize and validate new cancer panels and routinely monitor the performance of your assay
Technical Data
Format: Genomic DNA
Genes Covered: ABL1, ALK, BRAF, EGFR, FGFR2, FLT3, GNA11, GNAQ, IDH1, IDH2, JAK2, KIT, KRAS, MEK1 (MAP2K1), MET, NOTCH1, NRAS, PDGFRA, PIK3CA
Allelic Frequencies: 1.3% for verified variants
Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.0
Product Information
Verified Mutations: The Tru-Q Reference Standard has been manufactured using multiple engineered cell lines and mixed to generate multiple Allelic Frequencies in multiplex. An example of the allelic frequency by whole-exome sequencing for one batch of this product is reported in the table below.
Gene | Variant (AA) | CDS mutation | GRCh38 co-ordinates | Expected allelic frequency (%) | NGS allelic frequency (%) | NGS read depth |
---|---|---|---|---|---|---|
ABL1 | T315I | c.1001C>T | 9:130872896 | 1.30% | a | a |
ALK | F1174L | c.3522C>A | 2:29220829 | 1.30% | 1.42% | 633 |
BRAF | V600E | c.1799T>A | 7:140753336 | 7.70% | 8.03% | 946 |
BRAF | V600G | c.1799T>G | 7:140753336 | 1.00% | a | a |
BRAF | V600K | c.1798_1799delinsAA | 7:140753335 | 1.00% | b | b |
BRAF | V600M | c.1798G>A | 7:140753337 | 1.00% | 2.88% | 971 |
BRAF | V600R | c.1798_1799delinsAG | 7:140753335 | 1.00% | b | b |
EGFR | G719S | c.2155G>A | 7:55174014 | 16.70% | 16.76% | 889 |
EGFR | L858R | c.2573T>G | 7:55191822 | 1.00% | 1.24% | 483 |
EGFR | L861Q | c.2582T>A | 7:55191831 | 1.00% | 1.28% | 469 |
EGFR | T790M | c.2369C>T | 7:55181378 | 1.00% | a | a |
EGFR | ΔE746-A750 | c.2235_2249del | 7:55174771 | 1.00% | a | a |
FGFR2 | S252W | c.755C>G | 10:121520163 | 1.00% | 0.78% | 898 |
FLT3 | D835Y | c.2503G>T | 13:28018505 | 1.30% | 0.98% | 1123 |
FLT3 | ΔI836 | c.2508_2510del | 13:28018497 | 1.30% | 1.24% | 1125 |
GNA11 | Q209L | c.626A>T | 19:3118944 | 1.30% | 0.88% | 456 |
GNAQ | Q209L | c.626A>T | 9:77794572 | 1.30% | 1.78% | 957 |
IDH1 | R132C | c.394C>T | 2:208248389 | 1.30% | 1.62% | 679 |
IDH1 | R132H | c.395G>A | 2:208248388 | 1.30% | a | a |
IDH2 | R140Q | c.419G>A | 15:90088702 | 1.30% | 1.36% | 812 |
IDH2 | R172K | c.515G>A | 15:90088606 | 1.30% | 1.54% | 908 |
JAK2 | V617F | c.1849G>T | 9:5073770 | 1.30% | 1.47% | 1567 |
KIT | D816V | c.2447A>T | 4:54733155 | 1.30% | 2.24% | 670 |
KRAS | A146T | c.436G>A | 12:25225628 | 1.30% | 1.28% | 626 |
KRAS | G12A | c.35G>C | 12:25245350 | 1.30% | 1.29% | 621 |
KRAS | G12C | c.34G>T | 12:25245351 | 1.30% | 1.26% | 637 |
KRAS | G12D | c.35G>A | 12:25245350 | 1.30% | 2.23% | 627 |
KRAS | G12R | c.34G>C | 12:25245351 | 1.30% | a | a |
KRAS | G12S | c.34G>A | 12:25245351 | 1.30% | a | a |
KRAS | G12V | c.35G>T | 12:25245350 | 1.30% | 1.29% | 621 |
KRAS | G13D | c.38G>A | 12:25245347 | 25.00% | 21.79% | 647 |
KRAS | Q61H | c.183A>C | 12:25227341 | 1.30% | 0.95% | 950 |
KRAS | Q61L | 12:25227342 | 1.30% | 1.06% | 948 | |
MEK1(MAP2K1) | P124L | c.371C>T | 15:66436825 | 1.30% | 1.65% | 1209 |
MET | Y1253D | c.3757T>G | 7:116783374 | 0.90% | a | a |
NOTCH1 | L1600P | c.4799T>C | 9:136504892 | 1.20% | a | a |
NRAS | Q61H | c.183A>T | 1:114713907 | 1.30% | 1.54% | 907 |
NRAS | Q61K | c.181C>A | 1:114713909 | 1.30% | 1.44% | 903 |
NRAS | Q61L | c.182A>T | 1:114713908 | 1.30% | 1.12% | 896 |
NRAS | Q61R | c.182A>G | 1:114713908 | 1.30% | 0.78% | 893 |
PDGFRA | D842V | c.2525A>T | 4:54285926 | 1.30% | a | a |
PIK3CA | E542K | c.1624G>A | 3:179218294 | 1.30% | 0.84% | 1430 |
PIK3CA | E545K | c.1633G>A | 3:179218303 | 1.30% | 1.43% | 1395 |
PIK3CA | H1047R | c.3140A>G | 3:179234297 | 30.00% | 26.67% | 1196 |
a – Not detected - did not meet detection threshold, below LOD
b – Variant type not called by variant caller (large insertion, CN variant, fusion, indel)
Unit Size: 1 µg
Concentration: 50 ng/µl
Exome sequencing data: Download additional information on all exonic variants present in this product. Please note: this NGS data is not batch specific.
General Information
Storage: 4˚C
Expiry: See all product shelf life information
Quality Control
Allelic Frequency: Droplet Digital PCR™
DNA Integrity: Agarose gel electrophoresis
DNA Quantification: Spectrophotometry (A260)
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.