Sponsored genetic testing program
Genetic Testing for Niemann-Pick Disease Type C
If your child may have Niemann-Pick disease type C, comprehensive whole genome sequencing is available at no cost to your family
The program
NPC GenomeComplete
Sponsored by Beren Therapeutics · Performed by GeneDx
Only a licensed provider can order this test.
Condition
Niemann-Pick Disease Type C
Cost
$0
No cost to the patient
Results
Standard~4 wksRapid~5 daysTargeted3–4 wks
Sample
Whole blood
About this condition
Getting a clear genetic answer for your child can change everything, from guiding treatment decisions to ending a difficult diagnostic journey. NPC GenomeComplete is a sponsored genetic testing program that gives eligible children whole genome sequencing, the most comprehensive type of genetic test available, to look for the genetic cause of Niemann-Pick disease type C. Because this test reads the entire genome rather than just one or two genes, it can also uncover other genetic explanations if NPC is not confirmed. The program is fully funded by Beren Therapeutics and performed by GeneDx, so there is no cost to you, no insurance is needed, and no claim is ever sent to your insurance company. There is no cost to your family. The program also includes genetic counseling after testing, and a faster (rapid) option is available when your child's care team needs quicker results.
The genetic cause
Genes are the instructions the body uses to build itself. This test sequences WGS and looks most closely at the genes linked to niemann-pick disease type c:
Highest-yield genes shown. Full panel: WGS, sequenced with deletion/duplication analysis.
A result of “nothing found” is common and does not mean your child doesn't have the condition — it means no cause was found among these genes.
The test & cost
This test is provided at no cost to you. The program's sponsor covers the cost of testing, so there is no bill to you — no copay and no deductible.
- A simple sample. Usually whole blood. A kit is provided with return shipping.
- How soon results come back depends on the test. Standard GenomeDx: approximately 4 weeks. Rapid GenomeDx: preliminary results in about 5 days, final results in about 2 weeks. Targeted variant testing: 3–4 weeks. They then go to your doctor, who reviews them with you.
- Your information stays private. Testing is performed by a CLIA-certified laboratory. This directory never receives your medical information.
Who qualifies
- To qualify, all of the following must be met:
- The patient lives in the United States
- The patient is 15 years of age or younger
- As parent/guardian, you consent to sharing de-identified data with Beren Therapeutics P.B.C.
- And at least one of the following is true:any one of
- 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)
- The patient has 3 or more of the following signs or symptoms:at least 3 of
- Supranuclear gaze palsy or supranuclear saccadic palsy
- Developmental regression, early-onset cognitive decline, or dementia
- Dysarthria or dysphagia
- Treatment-resistant psychiatric illness (psychosis, schizophrenia, depression, etc.)
- Acute neonatal liver failure
- Pulmonary infiltrates or respiratory failure in infancy
- Gelastic cataplexy
- Progressive ataxia, dystonia, spasticity, or cerebral palsy
- Seizures
- Sensorineural hearing loss
- Splenomegaly/hepatomegaly
- Prolonged, unexplained jaundice or cholestasis (>2 weeks)
- Hypotonia or failure to thrive
- Unexplained fetal ascites or non-immune hydrops fetalis
Bring it to your doctor
You can't order this test yourself — in the US, only a licensed clinician can. Take this program to your doctor and ask whether it fits.
Common questions
What is the NPC GenomeComplete program for Niemann-Pick disease type C?
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.
Is NPC GenomeComplete genetic testing for Niemann-Pick disease type C really free?
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.
What kind of genetic test does the NPC GenomeComplete program use?
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.
Can parents also be tested through the NPC GenomeComplete program?
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.
Is there a rapid testing option for Niemann-Pick disease type C through NPC GenomeComplete?
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 about 5 days, with final results in about 2 weeks. Your child's doctor can request the rapid option when ordering the test if the clinical situation calls for urgent results.
Is genetic counseling included with NPC GenomeComplete testing for Niemann-Pick disease type C?
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.
Who qualifies for NPC GenomeComplete Niemann-Pick Disease Type C genetic testing?
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)
- Has at least three (3) of these clinical findings:
What information is shared, and who can see it?
NPC GenomeComplete is sponsored by Beren Therapeutics; testing is performed by GeneDx, an independent CLIA-certified laboratory. Participation does not obligate any provider or patient to recommend, purchase, prescribe, or support any Beren Therapeutics product or therapy. SponsoredTesting.com is operated by Casandra.ai, receives no protected health information, and is not compensated for test results, diagnoses, or prescriptions.