New CFTR panel expands detection of cystic fibrosis gene variants
Test analyzes more CFTR variants to support broader, inclusive screening
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Agena Bioscience has launched a new genetic testing panel designed to detect a broader range of mutations that cause cystic fibrosis (CF), the company announced.
The CFTR 100+ Panel can analyze more than 100 variants in the CFTR gene, which is altered in CF. It includes all variants recommended by the American College of Medical Genetics and Genomics (ACMG) in its 2023 update, along with additional variants of interest. The ACMG guidelines were updated in 2023 to include more CFTR disease-causing variants and improve detection across diverse populations.
Panel designed for high-throughput, targeted genetic testing
The panel is designed for use on Agena’s MassARRAY system, a laboratory platform that can analyze multiple disease-causing mutations at once. This enables efficient, high-throughput testing without requiring a transition to full-gene sequencing, which examines the entire gene to identify any possible change.
“With evolving CFTR variant recommendations, laboratories are reassessing panel content to ensure alignment with current standards,” Darryl Irwin, vice president of scientific affairs at Agena, said in a company press release. “The CFTR 100+ Panel provides expanded, guideline-aligned variant coverage while leveraging the established workflow and throughput capabilities of the MassARRAY System.”
CF is caused by mutations in the CFTR gene, which provides instructions for making a protein channel that regulates the movement of salt and water in and out of cells. When the CFTR protein is missing or doesn’t function properly, thick mucus accumulates in organs such as the lungs, pancreas, liver, and intestines, leading to a range of symptoms.
CF was one of the first genetic conditions for which testing to identify people carrying a CF-causing mutation was recommended. This type of population-wide carrier screening helps identify people who may be at risk of having a child with CF.
CFTR screening guidelines have expanded over time
In 2001, guidelines introduced a core set of CFTR variants for population-based screening, later refined in 2004 into a standard panel of 23 variants. For more than two decades, this panel has been widely used. However, research has shown that it may miss mutations more commonly found in people outside Northern European populations.
To improve detection across diverse populations, ACMG updated its recommendations in 2023, expanding the list to about 100 well-established disease-causing mutations capable of identifying at least 95% of all carriers across populations.
The new CFTR 100+ Panel is designed to align with these updated guidelines, enabling the analysis of more than 100 CFTR variants — including all variants recommended by ACMG — along with additional variants of interest, within a single assay.
The launch is designed to support laboratories seeking expanded CFTR variant analysis solutions that can be implemented without transitioning to full-gene sequencing, the company said.
