Cystic fibrosis is a life-limiting, autosomal recessive disease caused by variants in the CFTR gene. Many people with cystic fibrosis experience problems with their lungs, including serious infections, limited function, and long-term damage.

Asuragen Inc., a Bio-Techne brand, has launched a kit to detect pathogenic variants in the CFTR gene. According to the company, the AmplideX PCR/CE CFTR Kit, intended for research use only, provides broader coverage of the diverse U.S. population than any other commercially available, targeted CFTR testing assay.1,2

While much is known about variants associated with cystic fibrosis, the vast majority of that information came from studies of people of European descent. As a result, screening and diagnostic tests, as well as research-use assays, are more likely to detect pathogenic variants in individuals of European descent and less likely to detect them in individuals with non-European ancestry.3

“We are committed to ensuring that our Asuragen kits consistently deliver the most reliable information across all populations,” says Kim Kelderman, president of the diagnostics and genomics segment at Bio-Techne. “To that end, we are proud to launch the new AmplideX PCR/CE CFTR Kit, which incorporates variants from the latest large-scale studies of diverse populations to provide significantly broader coverage.” 

Including variants identified in recent population genomics studies, the AmplideX PCR/CE CFTR Kit is designed to detect approximately 93% of CFTR pathogenic variants observed in the U.S. population, providing more reliable variant detection regardless of ancestry.4 The kit can identify a broad range of variant types, including copy number variants, single tandem repeats, single nucleotide polymorphisms, insertions, and deletions. The kit can also resolve variant zygosity.

According to the company, the assay uses a simple, streamlined, and scalable approach to deliver results in less than five hours with fewer hands-on steps than other CFTR assays. The test is optimized for use on commonly used PCR and capillary electrophoresis laboratory equipment. 

In addition, the test includes push-button data analysis software and shares a common workflow with other assays in the AmplideX product portfolio for easy implementation. The AmplideX PCR/CE CFTR Kit can also combine with Asuragen’s AmplideX PCR/CE FMR1 Kit and AmplideX PCR/CE SMN1/2 Plus Kit to provide a same-platform assay solution for this trio of the most prevalent and commonly analyzed carrier genes.

For more information, visit Asuragen.

References

1. Beauchamp KA, Johansen Taber KA, Grauman PV, Spurka L, et al. Sequencing as a first-line methodology for cystic fibrosis carrier screening. Genet Med. 2019 Nov;21(11):2569-2576. doi: 10.1038/s41436-019-0525-y.

2. Westemeyer, M., Saucier, J., Wallace, J. et al. Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach. Genet Med 22, 1320–1328 (2020). https://doi.org/10.1038/s41436-020-0807-4

3. Schrijver I, Pique L, Graham S, Pearl M, et al. The spectrum of CFTR variants in nonwhite cystic fibrosis patients: implications for molecular diagnostic testing. J Mol Diagn. 2016 Jan;18(1):39-50. doi: 10.1016/j.jmoldx.2015.07.005.

4. Parker C, Kelnar K, Hallmark E, Hall B, et al. “Verification of a Targeted PCR/CE CFTR Assay and Companion Software that Addresses 93% Mutation Prevalence Across Diverse Ethnic Groups.” Association for Molecular Pathology (AMP) 2021 Annual Meeting Scientific Poster.

4. Parker C, Kelnar K, Hallmark E, Hall B, et al. “Verification of a Targeted PCR/CE CFTR Assay and Companion Software that Addresses 93% Mutation Prevalence Across Diverse Ethnic Groups.” Association for Molecular Pathology (AMP) 2021 Annual Meeting Scientific Poster.

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