GeneDx Partners with Zevra Therapeutics to Enhance Genetic Testing for Niemann-Pick Disease Type C

On March 10, 2026, GeneDx Holdings Corp (Nasdaq: WGS), a pioneer in rare disease diagnostics, announced its collaboration with Zevra Therapeutics, Inc. (Nasdaq: ZVRA) to launch a genetic testing program tailored for patients suspected of having Niemann-Pick Disease Type C (NPC). This innovative initiative aims to expand access to GeneDx’s cutting-edge ExomeDx™ test, enabling healthcare providers to achieve quicker and more accurate diagnoses.

Niemann-Pick Disease Type C is a rare and often underdiagnosed genetic disorder characterized by progressive neurodegeneration due to mutations in the *NPC1* and *NPC2* genes. These mutations disrupt the body's ability to transport cholesterol and lipids, leading to detrimental effects on the brain, liver, spleen, and lungs. Symptoms can manifest at any age and may overlap with other neurological and metabolic disorders, making timely diagnosis a significant challenge.

Through the new program, eligible patients across the United States will receive access to genetic testing at no cost, allowing clinicians to confirm or rule out NPC diagnoses efficiently. The provision of such data is pivotal in guiding patient management and identifying individuals who may benefit from existing therapies.

GeneDx plans to integrate de-identified data from the testing program into GeneDx Infinity™, which boasts the title of the largest and most comprehensive rare disease dataset globally. This substantial dataset is expected to enhance the understanding of disease biology, ultimately expediting the diagnostic journey for NPC patients and aiding healthcare providers in making informed treatment decisions.

“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,” stated Lisa Gurry, Chief Business Officer at GeneDx.

The new program represents a strategic move to eliminate barriers to high-quality exome sequencing. “When a disease is progressive and treatable, every day matters,” Gurry emphasized. By facilitating quicker access to genetic testing, GeneDx and Zevra aim to empower clinicians to reach accurate diagnoses and identify patients who may benefit from timely interventions.

Joshua Schafer, Chief Commercial Officer of Zevra Therapeutics, echoed this sentiment, stating, “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.”

GeneDx's ExomeDx test results will be available to clinicians and patients in as little as three weeks, significantly reducing the wait time often associated with genetic testing. Zevra Therapeutics is set to provide financial support for this program, reinforcing its commitment to advancing diagnosis and care for those affected by NPC.

The collaboration between GeneDx and Zevra Therapeutics marks a significant step forward in addressing the diagnostic challenges presented by Niemann-Pick Disease Type C. By leveraging advanced genomic testing and comprehensive datasets, this partnership aims to improve patient outcomes and facilitate access to life-changing therapies for a condition that has long been shrouded in uncertainty.

As GeneDx continues to push the boundaries of genomic medicine, the launch of this genetic testing program underscores the growing importance of precise and timely diagnoses in the management of rare diseases. The integration of innovative solutions in healthcare offers hope to families navigating the complexities of NPC, reinforcing the vital role of genetic testing in modern medicine.