ExomeDx (proband)

NPC Detect is a sponsored genetic testing program for people in the United States whose doctor suspects Niemann-Pick disease type C (NPC). The program provides whole exome sequencing performed by GeneDx, a leading genetics laboratory. Rather than looking at just one or two genes, whole exome sequencing examines roughly 20,000 genes, which gives your care team a comprehensive picture and the best chance of finding a genetic answer.

Yes, the NPC Detect program is completely free to you. Zevra Therapeutics, the program's sponsor, covers the full cost of the whole exome sequencing test. No insurance claim is filed, and you will not receive a bill, a copay, or any out-of-pocket charge.

Results from the NPC Detect program can be available in as soon as two weeks. Your ordering doctor or genetic counselor will review the findings with you and explain what they mean for your care. That turnaround is notably fast for a test that sequences the entire exome.

Because NPC Detect uses whole exome sequencing rather than a narrow single-gene test, it examines roughly 20,000 genes at once. If variants in the NPC1 or NPC2 genes are not found, the test may still identify a different genetic condition that explains your symptoms. This comprehensive approach gives your medical team the broadest possible look at potential genetic causes.

GeneDx, the laboratory that performs the NPC Detect test, offers genetic counseling support. A genetic counselor can help you and your family understand your results, what they mean for treatment options, and whether other family members should consider testing. Ask your ordering provider about accessing this support.

Patients may qualify for NPC Detect if they meet the program's eligibility criteria:

• You are suspected of having Niemann-Pick disease type C (NPC)
• You have all three (3) of the following symptoms:
  • Ataxia (balance and coordination problems)
  • Dysphagia (difficulty swallowing)
  • Either developmental delay, developmental regression, or intellectual disability
    • Developmental delay
    • Developmental regression (loss of skills you once had)
    • Intellectual disability
• You live in the USA
• You have not had prior genetic testing by a clinical laboratory that explained your symptoms
• Your ordering provider is authorized under applicable law to order genetic testing in the United States
• You consent to sharing de-identified data with Zevra Therapeutics