GenomeDx (proband)

NPC GenomeComplete is a sponsored genetic testing program designed for children who may have Niemann-Pick disease type C. It uses whole genome sequencing performed by GeneDx to look across the entire genome, including the NPC1 and NPC2 genes most closely linked to the condition. Because the test is so comprehensive, it can also identify other genetic causes if Niemann-Pick type C is not confirmed, which can be especially valuable for families still searching for answers.

Yes, NPC GenomeComplete is completely free to families. Beren Therapeutics sponsors the full cost of testing, so you will never receive a bill. No insurance is required and no claim is submitted to your insurance company. The program also includes post-test genetic counseling at no charge through GeneDx's genetic counseling team.

NPC GenomeComplete uses whole genome sequencing, which is the most comprehensive type of genetic test available. Unlike a single-gene test or even a gene panel, whole genome sequencing reads your child's entire genetic code, covering roughly 20,000 protein-coding genes plus non-coding regions that other tests may miss. This means it can look at the NPC1 and NPC2 genes associated with Niemann-Pick disease type C while also checking for other possible genetic causes.

Yes, NPC GenomeComplete offers duo or trio testing, which means one or both parents can be sequenced alongside the child. Comparing the child's genome to the parents' genomes helps the lab more accurately identify which genetic changes are meaningful. This parent testing is also covered at no cost through the program.

Yes, NPC GenomeComplete includes a rapid testing pathway for children who are experiencing rapid neurological decline. Through this pathway, preliminary results may be available in as few as 48 hours. Your child's doctor can request the rapid option when ordering the test if the clinical situation calls for urgent results.

Yes, post-test genetic counseling is available at no charge through GeneDx's genetic counseling team as part of the NPC GenomeComplete program. A genetic counselor can help you and your family understand what the results mean, answer your questions, and discuss next steps. This support is included at no extra cost so that families are never left to interpret complex results on their own.

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

• The patient resides in the United States
• The patient is age 15 or younger
• A parent or guardian consents to sharing de-identified data with Beren Therapeutics
• The patient meets at least one of the following:
  • Has at least three (3) of these clinical findings:
    • Supranuclear gaze palsy (trouble voluntarily moving the eyes up or down)
    • Developmental regression, early cognitive decline, or dementia
    • Dysarthria (slurred speech) or dysphagia (difficulty swallowing)
    • Treatment-resistant psychiatric illness (such as psychosis, schizophrenia, or depression)
    • Acute newborn liver failure
    • Lung infiltrates or respiratory failure in infancy
    • Gelastic cataplexy (sudden, brief loss of muscle tone triggered by laughter)
    • Progressive ataxia, dystonia, spasticity, or cerebral palsy
    • Seizures
    • Sensorineural hearing loss
    • Prolonged, unexplained jaundice or cholestasis lasting more than 2 weeks
    • Low muscle tone (hypotonia) or failure to thrive
    • Unexplained fetal ascites or non-immune hydrops fetalis (fluid buildup before birth)
    • Enlarged spleen and/or liver
  • Family history of Niemann-Pick disease type C with a confirmed molecular diagnosis
  • An elevated NPC biomarker (C-triol, PPCS, PPCS:lyso-SM, or a bile acid derivative in plasma or urine)