Quantitative Multiplex Reference Standard fcDNA (moderate)

The Quantitative Multiplex Formalin Compromised DNA Reference Standards (Mild, Moderate and Severe) provide biologically-relevant quality control material which can be used to assess the performance of NGS assays. These Formalin-Compromised DNA Standards vary in levels of fragmentation and formalin damage providing the ability to challenge your assay.

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 Quantitative Multiplex Reference Standard (QMRS) portfolio covers multiple endogenous SNPs, insertions and deletions. The QMRS includes 11 mutations at 0.8-24.5% allelic frequency in genomic DNA, FFPE and Formalin-Compromised DNA format. The multiple formats of the QMRS allow you to validate both the pre-analytical and analytical portion of your workflow using an isogenic reference standard. The FFPE format QMRS allows you to evaluate and optimize DNA extraction protocols without wasting precious patient samples. With the Formalin-Compromised format, the robustness of your NGS workflow may be tested to ensure that your library protocol and informatics pipeline can accommodate these highly degraded samples. The QMRS standard is our most popular multiplex standard as it provides both a breadth of formats, but also a large range of allelic frequencies and onco-relevant mutants.

With this product you are able to:

  • Evaluate the effect of formalin on your assay
  • Analyze the robustness of your workflow with multiple formats (DNA , FFPE and Formalin-Compromised DNA)
  • Optimize and validate new cancer panels and routinely monitor the performance of your assay

 

Technical Data

Format: Formalin-Compromised DNA

Genes Covered: BRAF, KIT, EGFR, KRAS, NRAS, PIK3CA 

Allelic Frequencies: 1% - 24.5%

Buffer: Tris-EDTA (10mM Tris-HCl, 1mM EDTA), pH 8.1

 

Product Information

Verified Mutations:

Chromosome

Gene

Variant

Expected Allelic Frequency, %

7q34

BRAF

V600E

10.50%

4q11-q12

cKIT

D816V

10.00%

7p12

EGFR

ΔE746 - A750

2.00%

7p12

EGFR

L858R

3.00%

7p12

EGFR

T790M

1.00%

7p12

EGFR

G719S

24.50%

12p12.1

KRAS

G13D

15.00%

12p12.1

KRAS

G12D

6.00%

1p13.2

NRAS

Q61K

12.50%

3q26.3

PIK3CA

H1047R

17.50%

3q26.3

PIK3CA

E545K

9.00%

Presence confirmed in parental cell line

Chromosome

Gene

Variant

Expected Allelic Frequency, %

2p23

ALK

P1543S

33%

1q25.2

ABL2

P986fs

8%

5q21-q22

APC

R2714C

33%

1p35.3

ARID1A

p.M1564fs*1

33.50%

13q12.3

BRCA2

K1691fs

33%

13q12.3

CDX2

V306fs

41.50%

22q13.2

EP300

K292fs

8%

4q31.3

FBXW7

S668fs

33.50%

8p12

FGFR1

P150L

8.50%

13q12

FLT3

V197A

11.50%

2q33.3

IDH1

S261L

10%

7q31

MET

L238fs

6.50%

3p21.3

MLH1

L323M

8.50%

17q11.2

NF1

Y628fs

7.50%

22q12.2

NF2

P275fs

8%

9q34.3

NOTCH1

P668S

31.50%

1q21-q22

NTRK1

5'UTR (1:156815754, GRCh38)

8.50%

4q12

PDGFRA

G426D

33.50%

Unit Size: 1 µg

Concentration: 50 ng/µl

 

General Information

Storage: 4˚C

Expiry: See all product shelf life information

 

Quality Control

Allelic Frequency: Droplet Digital PCR™

Quality: TapeStation gDNA ScreenTape Assay

Quantification: Qubit dsDNA BR Assay