Niemann-Pick Disease Type C

This program provides access to genetic testing for pediatric patients under 18 who present with an unprovoked seizure. The panel evaluates key epilepsy-associated genes to support diagnostic confirmation, inform prognosis, and guide clinical management. Testing is available to eligible patients when ordered by a licensed healthcare provider.

The Detect Lysosomal Storage Diseases Program provides no-charge genetic testing for patients in the US or Canada when an LSD is suspected. Eligible patients may present with clinical features, abnormal enzyme studies, positive newborn screens, or relevant family history. Testing through Invitae’s LSD panel can help confirm diagnosis and guide management.

The NPC Detect program offers no-charge genetic testing through GeneDx for US patients with a clinical suspicion of Niemann-Pick disease type C (NPC). Testing uses GeneDx's ExomeDx (proband) whole exome sequencing (key genes NPC1, NPC2), with results as soon as 2 weeks. The program is fully sponsored by Zevra Therapeutics — no insurance claim and no cost to the patient.

NPC GenomeComplete is a no-charge genetic testing program sponsored by Beren Therapeutics P.B.C. in partnership with GeneDx, for U.S. patients age 15 or younger with a clinical suspicion of Niemann-Pick disease type C (NPC). Testing uses GeneDx's GenomeDx whole genome sequencing (proband, with duo or trio testing available), covering the NPC1 and NPC2 genes along with the rest of the genome; a rapid pathway can return preliminary results in as few as 48 hours for children in rapid neurological decline. No insurance is required and no claim is submitted to the patient's insurance, and post-test genetic counseling is available at no charge through GeneDx's genetic counseling team.

The Lantern Project provides sponsored genetic testing for patients with suspected lysosomal storage diseases (LSDs). LSDs are multisystem disorders caused by impaired lysosomal function and often present with overlapping features. This program supports timely diagnosis by offering testing options for major conditions including Gaucher, Fabry, Pompe, and multiple MPS subtypes.