Cystic Fibrosis is a progressive, hereditary disease characterized by the accumulation of viscous mucus in multiple organs and caused by mutations in the CFTR gene.
The AmplideX® PCR/CE CFTR Kit* brings the simplicity and scalability of AmplideX technology to CFTR variant detection. Offering the streamlined detection of 67 pathogenic variants, covering approximately 93%† of the US population, the assay provides the broadest coverage of any commercially available, targeted testing kit. The assay is optimized for use on widely established laboratory equipment and delivers genotype results from DNA in just five hours.
For a list of variants detected by the AmplideX PCR/CE CFTR Kit*, please view the AmplideX PCR-CE CFTR Kit Brochure
|Assay Format||• 2 PCR reactions covering 67 pathogenic variants in CFTR Gene
• Content incl variants representative of diverse ethnicities based on recent large-scale studies
• Similar workflow to AmplideX PCR/CE Kits (FMR1, SMN1/2 Plus)
|Output||• Reports mutational status and zygosity of each variant included in the kit (SNPs, indels, repeats)
• PDF and CSV samples reports provides flexibility to customer
• Automated, push-button data reporting via AmplideX Reporter software
|Turnaround Time||Less than 5 hours|
|System Compatability||Applied Biosystems™ Genetic Analyzers|
|Catalog Number||50 Reaction Kit: A00076 - 100 Reaction Kit: A00077|
- Scientific Poster: “Two-site Evaluation of a Rapid and Simple CFTR PCR/CE Assay & Software Targeting Mutations Across Diverse Ethnic Groups”
Summary of the poster
- Cystic Fibrosis (CF) is caused by mutations in both copies of the CFTR gene, and affects ~1 in 3000-4000 US births; more than 2000 CFTR variants have been identified, with variable frequency within different population groups.
- Asuragen developed a streamlined, two-tube PCR/CE prototype assay which detects 67 variants commonly found in the diverse US population.
- Evaluation of AmplideX® PCR/CE CFTR* prototype assay produced consistent results for 73 residual clinical samples and eight controls across two laboratories, using a faster and simpler workflow than many other assays
- Whitepaper: “Making Coverage Count: Screening for CFTR Mutations in Diverse Populations with Effective Variant Panels”
Background information of Cystic Fibrosis (CF)
Cystic Fibrosis (CF) is among the most prevalent lethal autosomal recessive genetic diseases, with a pan-ethnic frequency of around 1 in 3,500 live births in the United States and Europe¹⁻⁴. While the disease impacts multiple organs, primary morbidity and mortality are associated with progressive loss of lung function and pulmonary disease caused by abnormal thickening of mucous, with an average survival of 40 years in patients with classic CF¹³⁵. Recently developed treatments have proven effective for many patients⁶, contingent on accurate genetic diagnosis. Non-classic CF is less common, with milder effects such as infertility, pancreatitis, and chronic lung and sinus issues⁵.
CF is caused by mutations in CFTR, a large gene with 27 exons that encodes an important transporter protein. CFTR protein regulates the flow of water in cells that produce mucous, sweat, and other fluids. Pathogenic mutations in both copies of the gene cause a breakdown in this mechanism, causing mucosal thickening responsible for primary symptoms. In the US, nearly 4% (1:25) of the population are CF carriers⁷, with one functional copy of CFTR and one copy with one or more pathogenic mutations.
CF carriers occur most frequently in non-Hispanic white (1:25) and Ashkenazi Jewish (1:24) ethnicities, with lower frequencies (1:58 to 1:94) in other ethnicities⁸. For this reason, knowledge of the mutations responsible for CF have historically focused on ethnicities with higher prevalence³ ⁵. Modernization of sequencing through NGS has enabled comprehensive assessment of over 2,000 CF mutations with broad ethnic representation, identifying significant heterogeneity between ethnic backgrounds¹³⁵⁷. Recent studies show that typical CF mutation panels recommended by guidelines do not include mutations frequently found in many ethnicities, leading to reduced detection sensitivity in diverse populations¹⁷.
Interested in more information? In this paper, Asuragen discusses the implications of their expanding understanding of CF and its underlying genetics for a broader range of ethnicities, particularly as it pertains to effective testing for all individuals regardless of ethnic background.