Agena Launches CFTR Panel to Meet New Genetic Screening Guidelines

SAN DIEGO, CA – March 30, 2026 – In a significant move to align with new clinical standards, Agena Bioscience today announced the launch of its CFTR 100+ Panel, a genetic testing solution designed to help laboratories meet recently expanded guidelines for cystic fibrosis carrier screening. The new panel, which runs on the company's established MassARRAY® System, provides a high-throughput method for identifying over 100 variants in the CFTR gene, directly addressing a critical update from the American College of Medical Genetics and Genomics (ACMG).

The launch comes as the medical community shifts toward more inclusive and comprehensive genetic screening protocols. Pathogenic variants in the CFTR gene cause cystic fibrosis, a life-threatening inherited disorder, and related conditions. For years, carrier screening relied on a limited panel of 23 variants that was primarily based on data from individuals of Northern European descent. This created a significant gap in detection rates for individuals from other ancestral backgrounds. Agena's new panel is engineered to close that gap, offering a tool for laboratories seeking to modernize their testing services.

“With evolving CFTR variant recommendations, laboratories are reassessing panel content to ensure alignment with current standards,” said Darryl Irwin, VP of Scientific Affairs at Agena Bioscience, in a statement accompanying the launch. “The CFTR 100+ Panel provides expanded, guideline-aligned variant coverage while leveraging the established workflow and throughput capabilities of the MassARRAY® System.”

A New Standard for Equity in Screening

The catalyst for this industry shift was the June 2023 publication of updated practice guidelines from the ACMG. The new recommendations dramatically expanded the minimum set of CFTR variants for carrier screening from 23 to over 100. The primary motivation for this change was to promote equity and improve detection rates across diverse biogeographic ancestries.

Cystic fibrosis is a global disease, but the frequency and type of CFTR mutations vary significantly between populations. The previous ACMG-23 panel, while effective for certain groups, could miss a substantial number of carriers in Hispanic, African, and Asian populations. The updated guidelines aim to rectify this by recommending a panel that can achieve a carrier detection rate of at least 95% across six major ancestral groups, leveraging massive genomic databases like gnomAD.

This new clinical mandate presented laboratories with a challenge: how to expand their testing capabilities to include four times as many variants without sacrificing efficiency or incurring prohibitive costs. Agena's CFTR 100+ Panel is positioned as a direct solution, incorporating all variants recommended by the 2023 ACMG update alongside other variants of clinical interest. By providing a pre-designed, multiplexed assay, the company aims to simplify the transition for its laboratory partners.

Beyond Sequencing: The Case for Targeted Genotyping

While next-generation sequencing (NGS) offers the ability to read an entire gene, many high-volume screening laboratories are turning to targeted genotyping for its unique advantages in efficiency and scalability. Agena's MassARRAY® System, which utilizes MALDI-TOF mass spectrometry, is a prime example of this approach. Instead of sequencing the entire CFTR gene, the system is designed to rapidly and accurately detect the presence or absence of a specific list of known variants.

This targeted methodology offers several key benefits for laboratories implementing the new ACMG guidelines. First is throughput. The MassARRAY® System is built for population-scale programs, capable of processing hundreds or thousands of samples per day with a streamlined workflow. This is crucial for carrier screening programs that handle large volumes. Second is cost-effectiveness. By focusing only on the variants of known clinical significance, targeted genotyping can be significantly less expensive per sample than full-gene sequencing.

Finally, it simplifies data analysis. Sequencing the entire gene can uncover numerous "variants of unknown significance" (VUS), creating complex interpretive challenges for clinicians and anxiety for patients. A targeted panel focuses on well-characterized pathogenic or likely pathogenic variants, such as those curated in the CFTR2 database, providing a clearer, more actionable result for carrier screening purposes. This allows laboratories to expand their coverage to the new 100+ variant standard without needing to invest in the extensive bioinformatics infrastructure and expertise required for large-scale NGS data interpretation.

Navigating a Competitive and Regulated Market

The launch of the CFTR 100+ Panel is also a strategic maneuver within the highly competitive molecular diagnostics market. Agena is positioning itself as a practical and efficient partner for labs feeling the pressure to upgrade their services. The panel is being released for Research Use Only (RUO), a critical designation with significant implications for its adoption.

An RUO product is not intended for direct use in patient diagnosis. Instead, it serves as a tool for clinical laboratories to develop and validate their own tests under the Clinical Laboratory Improvement Amendments (CLIA) framework. This pathway allows for rapid innovation, enabling companies like Agena to bring new technologies to market quickly. The burden of validation—proving the test is accurate, precise, and clinically relevant—falls on the individual laboratory, which will then offer it as a Laboratory-Developed Test (LDT).

This strategy allows reference laboratories and molecular genomics programs to adopt the expanded panel and integrate it into their existing MassARRAY® workflows, which may already be in place for other applications like pharmacogenomics or oncology. By providing the core chemistry and analytics, Agena empowers labs to meet the new ACMG standard while maintaining control over their own test offerings. The success of this approach will depend on the ease of validation and the clear clinical and economic benefits the panel provides over alternative methods, ultimately shaping the landscape of cystic fibrosis screening for years to come.