GeneDx, the Gaithersburg, Maryland-based rare disease genomics company, and Beren Therapeutics P.B.C. announced on September 9, 2026 the launch of NPC GenomeComplete, a sponsored testing program offering no-cost comprehensive genome sequencing to eligible pediatric patients suspected of having Niemann-Pick Disease Type C (NPC). Lisa Gurry, Chief Business Officer at GeneDx, said: “For children with suspected rare disease, an accurate diagnosis can be life-changing. By combining GeneDx’s diagnostic expertise with the power of our genomic data and Beren’s deep understanding of NPC, this collaboration can help more patients get answers sooner and accelerate the path to appropriate care.”
No-Cost Testing, No Insurance Required
The program, fully sponsored by Beren Therapeutics, is open to pediatric patients with clinical findings, family history, or biomarker evidence suggestive of NPC, and requires no insurance to participate. It includes targeted NPC1 and NPC2 variant testing, with rapid genome sequencing available in as soon as 48 hours for eligible urgent cases. Healthcare providers and families can find eligibility details and access the program directly through GeneDx.
A Disease Where Most Patients Never Get a Diagnosis
NPC is a rare, progressive genetic neurodegenerative disorder that GeneDx and Beren say remains dramatically underdiagnosed: an estimated two-thirds of U.S. patients go undiagnosed, and of roughly 475 children believed to have infantile-onset NPC, only about 175 currently carry a diagnosis. Beren Founder and CEO Jason Camm framed the program as a direct response to that gap: “Nearly every family we speak with in the NPC community describes a long diagnostic journey full of uncertainty. Beren designed NPC GenomeComplete to change that through broad comprehensive genome sequencing, family testing and genetic counseling at no charge. GeneDx brings the genomic expertise and infrastructure needed to make that approach available nationally and help find children who might otherwise remain undiagnosed.” Beren and its subsidiary Mandos LLC are separately developing adrabetadex, an investigational treatment for NPC that is not yet approved by the FDA or any other health authority, and have made it available to some patients through an Expanded Access Program.
About GeneDx
GeneDx’s mission is to empower everyone to live their healthiest life through genomics. GeneDx combines unmatched clinical expertise, advanced technology, and the power of GeneDx Infinity™, the world’s largest rare disease genomic dataset, to power its ExomeDx™ and GenomeDx® tests. A genomics pioneer over the last 25 years, GeneDx has diagnosed more than 4,800 genetic diseases and published more than 1,000 research publications.
About Beren Therapeutics
Beren Therapeutics P.B.C.® is a founder-led, clinical-stage biotechnology company pioneering the discovery, development, and commercialization of cyclodextrin-based therapeutics for conditions characterized by defective cholesterol trafficking. Beren is headquartered in Thousand Oaks, California.
