Program to expand access to exome sequencing to help clinicians confirm diagnosis and guide clinical decision-making in NPC

Company Website: https://genedx.com
GAITHERSBURG, Md. -- (Business Wire)

GeneDx (Nasdaq: WGS), the leader in rare disease diagnosis and improving health through the power of genomic data, today announced a new genetic testing program with Zevra Therapeutics, Inc. (Nasdaq: ZVRA), a commercial-stage biopharmaceutical company focused on bringing life-changing therapeutics to people living with rare diseases. The Niemann-Pick Disease type C (NPC) Sponsored Genetic Testing Program is designed to expand access to GeneDx’s industry-leading ExomeDx™ test for patients with suspected Niemann-Pick disease type C, helping clinicians reach accurate diagnoses faster and guide clinical decision-making. De-identified data from the program will be added to GeneDx Infinity™, the largest and most comprehensive rare disease dataset, to help drive faster diagnoses of NPC to help patients and providers make informed treatment decisions.

NPC is a rare, inherited, and often underdiagnosed condition that can progress relentlessly while families search for answers. Through this program, eligible patients in the United States will have access to genomic testing via GeneDx to help confirm or rule out a diagnosis of NPC. Providing data to support an accurate diagnosis is a critical step in guiding patient management and identifying individuals who may benefit from available therapies. The program builds on Zevra’s leadership in NPC underscoring the growing importance of timely and accurate genetic diagnosis as new treatment options emerge.

“When a disease is progressive and treatable, every day matters. Through our partnership with Zevra we are removing barriers to high-quality exome sequencing so clinicians can reach answers faster, confirm diagnoses with precision, and identify patients earlier,” said Lisa Gurry, Chief Business Officer at GeneDx. “Our partnership programs are fueled by the GeneDx Infinity™ dataset – the world’s largest rare-disease genomic dataset – enabling biopharma partners to better understand disease biology, and accelerate the patient journey from diagnosis to treatment. This is how we translate genomic insight into transformative, real-world impact for patients.”

NPC is caused by mutations in the NPC1 and NPC2 genes that impair the body’s ability to transport cholesterol and other lipids. This disruption leads to abnormal lipid buildup in the brain, liver, spleen, and lungs, resulting in progressive neurodegeneration, organ involvement, and potentially fatal outcomes. Symptoms can emerge in childhood or adulthood, and diagnosis is often delayed due to wide clinical variability and overlap with other neurological and metabolic conditions.

“NPC is a devastating disease that is frequently underrecognized, often leading to delays in diagnosis and treatment,” said Joshua Schafer, Zevra’s Chief Commercial Officer. “This strategic partnership with GeneDx will enhance access to genetic testing and supports physicians in identifying NPC patients earlier, enabling more timely and informed clinical decision-making. By accelerating the diagnostic process, we hope to reduce uncertainty for families and ensure patients can access appropriate treatment as quickly as possible.”

Through the program, GeneDx is slated to offer testing to U.S.-based clinicians caring for patients with known or suspected NPC who meet eligibility criteria. Patients will then be eligible to receive GeneDx's ExomeDx test at no charge and results will be provided to clinicians and their patients in as little as three weeks. Zevra Therapeutics will provide financial support for the program as part of its commitment to advancing diagnosis and care in NPC.

About GeneDx
GeneDx’s (Nasdaq: WGS) 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. This unparalleled foundation powers GeneDx’s ExomeDx™ and GenomeDx™ tests – ranked #1 by expert geneticists and granted FDA Breakthrough Device designation – enabling clinicians to deliver precise, fast, and actionable diagnoses. GeneDx Infinity also fuels discovery for biopharma, with the most powerful AI-driven genomic intelligence. A genomics pioneer over the last 25 years, diagnosing more than 4,800 genetic diseases and publishing more than 1,000 research publications, GeneDx is building the network that will drive the future of genomic precision medicine. For more information, visit genedx.com and connect with us on LinkedIn, Facebook, and Instagram.

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Source: GeneDx