GeneDx receives FDA Breakthrough Device Designation for whole genome and exome tests

The FDA has granted Breakthrough Device Designation to GeneDx’s whole genome and exome tests for use in diagnosing symptomatic patients with life-threatening diseases or genetic disorders, according to a company announcement.

GeneDx, which has performed more than 2.5 million genetic tests in its CLIA-certified and CAP-accredited laboratory, offers two comprehensive diagnostic options. The ExomeDx test evaluates protein-coding regions where most pathogenic variants occur, while the GenomeDx test sequences the entire genome to detect structural and noncoding variants that may not be identified through targeted panels or chromosomal microarray.

“Diagnosis informed by an individual’s genetics rather than symptoms alone can lead to improved clinical outcomes and help eliminate the typically years-long ‘diagnostic odyssey’ faced by these patients and families,” said Mimi Lee, MD, PhD, chief precision medicine officer at GeneDx. “The FDA Breakthrough Device Designation for our ExomeDx and GenomeDx tests underscores what clinical practice has shown for years, that comprehensive genomic testing should be the starting point – not the last resort – for patients with rare diseases and unexplained symptoms.”

The tests are supported by GeneDx Infinity, a large rare-disease dataset that includes nearly one million sequenced exomes and genomes and more than 7 million phenotypic datapoints. GeneDx reports that these resources, combined with next-generation sequencing technology, allow delivery of rapid and reliable results across diverse populations.

"By combining the industry's largest and most diverse rare-disease dataset with advanced AI and deep clinical expertise, GeneDx is positioned to help clinicians deliver faster, more reliable diagnoses for families who have waited far too long for answers,” said Katherine Stueland, president and chief executive officer at GeneDx.

The FDA Breakthrough Device Designation is intended for technologies that may offer more effective diagnosis or treatment for serious or irreversibly debilitating conditions. The designation provides an expedited review pathway, including prioritized feedback and enhanced interaction with the agency, to support faster access to innovative diagnostic tools for patients.

“As a trusted partner across the healthcare ecosystem, working collaboratively with clinicians, patients, biopharma – and now with FDA – the Breakthrough designation is another milestone advancing our shared mission of making precision medicine the standard of care for all,” Stueland said.

GeneDx describes itself as a global leader in rare disease diagnosis, with genomic testing capabilities developed over 25 years and informed by millions of tests and associated clinical insights.

Reference

GeneDx Granted FDA Breakthrough Device Designation for its ExomeDx™ and GenomeDx™ Testing. GeneDx. October 20, 2025. Accessed November 10, 2205. https://ir.genedx.com/news-releases/news-release-details/genedx-granted-fda-breakthrough-device-designation-its-exomedxtm