The program provides no-cost comprehensive genome sequencing for eligible pediatric patients with clinical findings, family history, or biomarker evidence suggestive of Niemann-Pick Disease Type C (NPC), helping address barriers to diagnosis and identify children who are currently undiagnosed.

NPC is a rare, progressive, genetic, neurodegenerative disorder that results in progressive neurological decline and premature death. Heterogeneous clinical presentation and age of onset vary widely, making diagnosis challenging and leaving approximately two-thirds of patients in the United States undiagnosed. The most severe form, infantile-onset NPC (I-NPC), presents with neurological signs before age six. In the U.S., approximately 475 children are believed to have I-NPC, yet only approximately 175 are currently diagnosed.1

In a progressive disease like NPC, where lost neurological function cannot be regained, early diagnosis is crucial. NPC GenomeComplete is designed around the heterogeneous ways NPC presents in clinical practice, without requiring a classic presentation or prior specialist diagnosis. The program gives eligible healthcare providers access to genome sequencing and targeted NPC1 and NPC2 variant testing with rapid sequencing available for eligible children requiring urgent medical decisions. Rapid genome sequencing can provide preliminary results in as soon as 48 hours.

"Nearly every family we speak with in the NPC community describes a long diagnostic journey full of uncertainty," said Jason Camm, Founder and Chief Executive Officer of Beren Therapeutics. "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."

"For children with suspected rare disease, an accurate diagnosis can be life-changing," said Lisa Gurry, Chief Business Officer at GeneDx. "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."

Testing is fully sponsored by Beren Therapeutics and does not require a patient to have insurance, helping reduce financial and insurance-related barriers to comprehensive genomic testing.