AmplideX® PCR/CE CFTR Kit*

cftr gene mutation testing kit

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Solve Cystic Fibrosis Testing Coverage Challenges

Many commercially available CFTR panels were designed using variant information from disease databases that are heavily skewed toward individuals with European ancestry, making equitable coverage for ethnically diverse populations challenging. To address these coverage gaps, Asuragen, a Bio-Techne brand’s AmplideX PCR/CE CFTR Kit was designed with diversity in mind and based on recent, large-scale population studies that include data from a range of ethnic groups more representative of the U.S. population.

Although more than 2100 CFTR variants have been documented, these variants differ in levels of pathogenicity and prevalence between ethnicities.1 ACOG guidelines state full gene sequencing is inappropriate for screening and should be reserved for specific clinical cases, so it is paramount to have a commercially available, targeted panel with a selection of variants that provides equitable coverage and is less likely to miss carriers in diverse populations.2

Figure 1.
cftr genetic coverage
Most CFTR panels have been designed from this type of CFTR2 Database even though the U.S. population looks more like the Beauchamp et al. database.

Asuragen Addresses Critical Coverage Gaps in CFTR Panels

cftr genetic testing comparison chart

Table 2.

Designed to solve complex CFTR coverage challenges to provide the broadest coverage† of the U.S. population of any available targeted kit with an easy-to-use AmplideX workflow and a complementary assay portfolio.

asuragen cftr coverage percentage

Features & Benefits

Reduced Complexity

  • Ready-to-use test kit with quality-controlled reagents reduces pipetting steps.
  • Similar workflow 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 designed to reduce hands-on tech time.
  • Utilizes widely available laboratory PCR/CE instrumentation.
  • <5 hrs from DNA to data.

Quality Results

  • Built on the latest prevalence data to provide the best coverage† for all U.S. ethnicities.4
  • Detects complex yet key CFTR variants (STRs, SNPs, INDELs) and resolves zygosity.
  • Excellent concordance with other methods.

Analytical Performance

Figure 2. Hands-on time and instrument time for the AmplideX CFTR PCR/CE Kit.

amplidex cftr genetic assay workflow

 

Method Comparison Study

Sample level genotype agreement between AmplideX PCR/CE CFTR Kit and Reference Method.

Sample level agreement for 146 total samples (51 DBS, 91 whole blood and 4 cell lines) run on 7 CE configurations.

Table 3A. Sample level agreement for 146 total samples (51 DBS, 91 whole blood and 4 cell lines) run on 7 CE configurations.

Sample level agreement for 47 cell line samples.

Table 3B. Sample level agreement for 47 cell line samples.

 

Ordering

Product Name Number of Reactions Catalog Number
AmplideX® PCR/CE CFTR Kit** 50 A00519
AmplideX® PCR/CE CFTR Kit** 100 A00520

References

  1. Russo ML. UpToDate. 2020.
  2. Opinion 691. ACOG. 2017
  3. Clinical and Functional Translation of CFTR (CFTR2). www.CFTR2.org.
  4. Based on data from Beauchamp KA, et al. Genet Med. 2019.

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

 

AmplideX® PCR/CE CFTR Kit*

Contact Us to Order

Solve Cystic Fibrosis Testing Coverage Challenges

Many commercially available CFTR panels were designed using variant information from disease databases that are heavily skewed toward individuals with European ancestry, making equitable coverage for ethnically diverse populations challenging. To address these coverage gaps, Asuragen, a Bio-Techne brand’s AmplideX PCR/CE CFTR Kit was designed with diversity in mind and based on recent, large-scale population studies that include data from a range of ethnic groups more representative of the U.S. population.

Although more than 2100 CFTR variants have been documented, these variants differ in levels of pathogenicity and prevalence between ethnicities.1 ACOG guidelines state full gene sequencing is inappropriate for screening and should be reserved for specific clinical cases, so it is paramount to have a commercially available, targeted panel with a selection of variants that provides equitable coverage and is less likely to miss carriers in diverse populations.2

Figure 1.
cftr genetic coverage
Most CFTR panels have been designed from this type of CFTR2 Database even though the U.S. population looks more like the Beauhchamp et al. database.

Asuragen Addresses Critical Coverage Gaps in CFTR Panels

cftr genetic testing comparison chart

Table 2.

Designed to solve complex CFTR coverage challenges to provide the broadest coverage† of the U.S. population of any available targeted kit with an easy-to-use AmplideX workflow and a complementary assay portfolio.

asuragen cftr coverage percentage

Features & Benefits

Reduced Complexity

  • Ready-to-use test kit with quality-controlled reagents reduces pipetting steps.
  • Similar workflow 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 designed to reduce hands-on tech time.
  • Utilizes widely available laboratory PCR/CE instrumentation.
  • <5 hrs from DNA to data.

Quality Results

  • Built on the latest prevalence data to provide the best coverage† for all U.S. ethnicities.4
  • Detects complex yet key CFTR variants (STRs, SNPs, INDELs) and resolves zygosity.
  • Excellent concordance with other methods.

Analytical Performance

Figure 2. Hands-on time and instrument time for the AmplideX CFTR PCR/CE Kit.

amplidex cftr genetic assay workflow

 

Method Comparison Study

Sample level genotype agreement between AmplideX PCR/CE CFTR Kit and Reference Method.

Sample level agreement for 146 total samples (51 DBS, 91 whole blood and 4 cell lines) run on 7 CE configurations.

Table 3A. Sample level agreement for 146 total samples (51 DBS, 91 whole blood and 4 cell lines) run on 7 CE configurations.

Sample level agreement for 47 cell line samples.

Table 3B. Sample level agreement for 47 cell line samples.

 

Ordering

Product Name Number of Reactions Catalog Number
AmplideX® PCR/CE CFTR Kit** 50 A00519
AmplideX® PCR/CE CFTR Kit** 100 A00520

References

  1. Russo ML. UpToDate. 2020.
  2. Opinion 691. ACOG. 2017
  3. Clinical and Functional Translation of CFTR (CFTR2). www.CFTR2.org.
  4. Based on data from Beauchamp KA, et al. Genet Med. 2019.

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

 

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