IF YOU SUSPECT IT, CONFIRM IT WITH GENETIC TESTING

Luiz Felipe,
2 years old, living with infantile-onset NPC, and his family.

Genetic testing is the definitive way to confirm Niemann-Pick type C, or NPC.¹

UNDERSTANDING YOUR TESTING OPTIONS

NPC is caused by changes in specific genes that affect how cells move cholesterol.²

Genetic testing is the most reliable way to confirm NPC. Some genetic panels do not include the NPC1 and NPC2 genes, which can lead to a missed diagnosis. Ask your doctor for comprehensive testing—such as a gene panel that includes NPC1 and NPC2, whole exome sequencing, or whole genome sequencing—to ensure the most complete results.^1-3

Support to help you get answers

Beren offers a sponsored genetic testing program that helps eligible families access whole genome sequencing at no cost. It can provide a more comprehensive way to look at the genes that impact NPC and find changes that other tests may miss.¹

Don't delay getting answers

Use this symptom checklist to help understand whether what you're seeing could be signs of NPC.

Access checklist

Find care from an NPC-experienced center

Use our specialist finder tool to search for healthcare providers and care centers experienced in diagnosing and managing NPC near you.

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References: 1. Patterson MC, Clayton P, Gissen P, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: an update. Neurol Clin Pract. 2017;7(6):499-511. doi:10.1212/CPJ.0000000000000399 2. Hiwot T, Porter FD, Bremova-Ertl T, et al. 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. J Inherit Metab Dis. 2026;49(3):e70185. doi:10.1002/jimd.70185 3. Bremova-Ertl T, Patterson M. Niemann-Pick disease type C. In: Adam MP, Bick S, Mirzaa GM, et al, eds. GeneReviews® [Internet]. Updated November 20, 2025. Accessed August 10, 2026. https://www.ncbi.nlm.nih.gov/books/NBK1296/

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