Genetic
testing is required  
to confirm NPC¹

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

If infantile-onset Niemann-Pick disease, type C (NPC), is suspected, prompt genetic testing is imperative for a timely diagnosis and to prevent delay in appropriate management.²

Understanding NPC^2,3

NPC is caused by pathogenic variants in the NPC1 or NPC2 genes which encode proteins essential for lysosomal cholesterol transport. Impaired intracellular cholesterol trafficking results in pathological accumulation in lysosomes, causing lysosomal dysfunction and deficiency of cellular function. Lysosomal dysfunction and cholesterol deficiency lead to neuronal dysfunction, neurodegeneration, progressive neurological decline, and premature mortality.

Although biomarker testing may support evaluation, genetic testing is required to confirm NPC.¹

Genetic testing approaches include^1,2:

Targeted NPC1/NPC2 sequencing
Multigene panels, including NPC1 and NPC2
Whole exome sequencing (WES)
Whole genome sequencing (WGS)

Genetic complexity of NPC

Comprehensive genetic testing may include an NPC1/NPC2-inclusive gene panel, WES, or WGS. WGS offers the broadest genomic coverage by detecting^1,2,4:

Copy number variants
Structural rearrangements
Deep intronic changes that targeted sequencing methods may not reliably detect

Sponsored genetic testing programs are available when NPC is suspected, providing access to genome-scale sequencing that may help identify variants not detected through more limited testing approaches.^1,2

Early diagnosis by genetic testing can enable early intervention that slows disease progression.³

Not a real patient.

ORDER GENETIC TESTING AT NO COST

Beren will provide patients meeting certain eligibility criteria with sponsored whole genome sequencing and familial variant testing.

Access genetic testing

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. Berry-Kravis E. Niemann-Pick disease, type C: diagnosis, management and disease-targeted therapies in development. Semin Pediatr Neurol. 2021;37:100879. doi:10.1016/j.spen.2021.100879 4. 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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Genetic testing is required to confirm NPC1

Understanding NPC2,3