AmplideX® PCR/CE CFTR Kit

Cystic fibrosis (CF) is a life-limiting, autosomal recessive disease caused by the presence of pathogenic alterations in the CFTR gene. While CFTR variants are prevalent in Caucasian and Ashkenazi Jewish populations, they also occur in other groups. Furthermore, recent studies show that many existing CFTR mutation panels do not include mutations frequently found in other ethnicities*, which can lead to reduced detection rates in diverse populations.

Informed by recent large-scale, population studies*, the AmplideX® PCR/CE CFTR Kit** has been designed to detect approximately 93% of the pathogenic CFTR variants observed in the U.S. population. As a result, it provides broader coverage than any other commercially available, targeted testing kit. The assay also includes push-button data analysis software to provide a simple, streamlined, and scalable testing solution that delivers meaningful results in under five hours. The test shares a common workflow with other assays in the AmplideX product portfolio and is optimized for use on widely established laboratory equipment.

Features & Benefits

Reduced Complexity

  • Broad coverage* using only PCR/CE workflow
  • Similar testing process to AmplideX PCR/CE FMR1** and SMN1/2 Plus** kits eases implementation
  • Streamlined data analysis via AmplideX Reporter software

Optimized Workflow

  • Easy-to-use workflow with fewer hands on steps than most competitor assays
  • Flexible use on widely installed CE equipment
  • Less than 5 hours from DNA to data

Quality Results

  • Built on the latest prevalence data to provide the best coverage* for all United States ethnicities
  • Detects complex yet key CFTR mutations (CNVs, STRs, SNPs, INDELs) and resolves zygosity
  • Excellent concordance with other methods

Analytical Performance

Figure 1. Testing Workflow for AmplideX PCR/CE CFTR Kit.

AmplideX_CFTR_Assay_workflow

 

Figure 2A. Ethnic diversity of 89K patients in CFTR2*** database.

CFTR2_database

 

Figure 2B. Ethnic diversity of 115K subjects in U.S. study.*

CFTR_ethnic_piechart

 

Table 1. Percent coverage of variants detected by commercially available kits based on frequencies observed in the CFTR2 database and the U.S. population.

CFTR_Table_Percent_Coverage_Comparison

 

Table 2A. Mutations in Cell Lines Detected by Prototype PCR/CE CFTR Kit and Sanger Sequencing.

76 cell lines from coriell repository

 

Table 2B. Mutations in Clinical Samples Detected by Prototype PCR/CE CFTR Kit and Either xTAG® Cystic Fibrosis (CFTR) 60 Kit v2 or Sanger Sequencing.

102 clinical samples across 3 sites

 

Figure 3. AmplideX Reporter Software Output.

cftr reporter output

 

Additional Resources

VIDEO: “A Fast Track to Covering Your Bases: How the AmplideX® PCR/CE CFTR Kit Streamlines the Detection of Diverse Pathogenic Variants in Under Five Hours”

How the AmplideX PCR-CE CFTR Kit Streamlines the Detection of Diverse Pathogenic Variants in Under 5 Hours

Does testing for more CFTR mutations yield greater coverage? Do your panels reflect your testing population’s diversity? This video evaluates the quality versus quantity of variants in CFTR mutation testing, relates this concept to the design, performance, and simplicity of the AmplideX® PCR/CE CFTR Kit**, and translates the benefits of this kit to the streamlined, scalable, and rapid detection of mutations across different populations.

 

WHITE PAPER: “Making Coverage Count: Screening for CFTR Mutations in Diverse Populations with Effective Variant Panels”

Many CFTR panels were designed using variant information from disease databases that are heavily skewed toward individuals with European ancestry. Recent studies, however, have shown that many CFTR carriers may be missed in ethnically-diverse populations*, including the US demographic. To address these coverage gaps, Asuragen scientists consulted recent, large-scale population studies in the development of the AmplideX PCR/CE CFTR Kit to ensure key CFTR variants could be detected across ethnic groups.

 

VIDEO: Answers for All: Addressing Coverage Gaps in Current CFTR testing

Cystic fibrosis screening tests should provide reliable answers for all people, but there are concerning gaps in CFTR coverage. We’re working to resolve this to ensure broad CFTR testing coverage for all. This video premiered at the 2021 ASHG annual meeting.

VIDEO: The AmplideX PCR/CE CFTR Kit Illustrated

POSTER: Quality Over Quantity: CFTR Panel Comparison (J. Larson, ASHG 2020)

Ordering

Product Name Number of Reactions Catalog Number
AmplideX® PCR/CE CFTR Kit** 50 A00076
AmplideX® PCR/CE CFTR Kit** 100 A00077

T 1-877-777-1874; 512-681-5200
E aus.orders@bio-techne.com

References

*Beauchamp et al, Genet Med. 2019 Nov;21(11):2569-2576z

**For Research Use Only. Not for use in Diagnostic procedures.

***The Clinical and Functional Translation of CFTR (CFTR2); available at http://cftr2.org

 

AmplideX® PCR/CE CFTR Kit

Cystic fibrosis (CF) is a life-limiting, autosomal recessive disease caused by the presence of pathogenic alterations in the CFTR gene. While CFTR variants are prevalent in Caucasian and Ashkenazi Jewish populations, they also occur in other groups. Furthermore, recent studies show that many existing CFTR mutation panels do not include mutations frequently found in other ethnicities*, which can lead to reduced detection rates in diverse populations.

Informed by recent large-scale, population studies*, the AmplideX® PCR/CE CFTR Kit** has been designed to detect approximately 93% of the pathogenic CFTR variants observed in the U.S. population. As a result, it provides broader coverage than any other commercially available, targeted testing kit. The assay also includes push-button data analysis software to provide a simple, streamlined, and scalable testing solution that delivers meaningful results in under five hours. The test shares a common workflow with other assays in the AmplideX product portfolio and is optimized for use on widely established laboratory equipment.

Ordering

Product Name Number of Reactions Catalog Number
AmplideX® PCR/CE CFTR Kit** 50 A00076
AmplideX® PCR/CE CFTR Kit** 100 A00077

T 1-877-777-1874; 512-681-5200
E aus.orders@bio-techne.com

Back To
Top