Accel-Amplicon™ CFTR Panel presented at the 2017 American College of Medical Genetics Annual Meeting
(ANN ARBOR, Mich. – March 22, 2017) Swift Biosciences today announced the commercial release of its Accel-Amplicon CFTR Panel. This panel will offer research laboratories a more comprehensive, next-generation sequencing (NGS)-based approach to interrogate the coding region and select introns within the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene for disease-relevant mutations and variants.
Cystic Fibrosis (CF), an autosomal recessive disorder, impacts more than 70,000 children and adults worldwide with approximately 1,000 new cases diagnosed in the United States each year. There are more than 2,000 known mutations in the CFTR gene, yet most available panels only screen for common CFTR mutations most prevalent in Northern European ancestry. The frequency of CFTR variants varies among populations, therefore, new innovative assay designs, coupled with the speed and depth of NGS, are needed to expand the genomic content and increase the detection rate.
The Accel-Amplicon CFTR panel is a simple, rapid and complete assay tailored for clinical researchers and reference laboratories to help discover novel variants; screen common and rare mutations to explore the disease mechanism; and develop new therapeutic options. It is designed to offer a higher resolution view into the CFTR gene and is optimized to work with crude, low-input samples, such as dried blood spots (DBS), a sample type frequently collected for research and newborn screening programs.
“Cystic Fibrosis is a complex genetic disease with a widely varying severity of symptoms for each individual,” said Haley Fiske, Chief Commercial Officer of Swift Biosciences. “With no known cure, carrier screening is paramount to disease research and management. Our new Accel-Amplicon CFTR Panel is a broader genomic tool to better identify both common and rare mutations in diverse populations.”
Key features and benefits of the Accel-Amplicon CFTR Panel include:
- Detects a wide range of variants and mutations in all exonic and select intronic regions of the full gene and covers a genomic footprint of 10kb, which is the largest footprint of any available method.
- Produces ready-to-sequence libraries in only two hours and offers three to four times more libraries processed per day compared to other NGS or Sanger sequencing-based methods.
- Requires as little as 10 ng sample input from diverse sample types, such as whole blood, DBS, saliva or buccal swabs. It is the only commercially available CFTR panel sequencing assay that requires the lowest sample input.
- Uses an easy, single-tube workflow to minimize labor cost and sample tracking errors.
- Generates high-quality da