Sponsored genetic testing program
Genetic Testing for Niemann-Pick Disease Type C
Sponsored whole genome sequencing for pediatric patients with clinical suspicion of Niemann-Pick disease type C, including a rapid pathway
The program
NPC GenomeComplete
Sponsored by Beren Therapeutics · Performed by GeneDx
Test ordered: GenomeDx · WGS
Ordered here — no lab portal, no login, nothing installed.
Condition
Niemann-Pick Disease Type C
Cost
$0
No cost to the patient
Results
Standard~4 wksRapid~5 daysTargeted3–4 wks
Sample
Whole blood
Program document
NPC GenomeComplete · Sponsored Testing Program
Genetic testing for niemann-pick disease type C
Sponsored by Beren Therapeutics · Performed by GeneDx · Test: GenomeDx
to patient
- Indication
NPC GenomeComplete provides no-cost whole genome sequencing for the diagnostic workup of suspected Niemann-Pick disease type C in pediatric patients aged 15 or younger. Performed by GeneDx, the assay covers NPC1 and NPC2 within the context of a full genome, enabling identification of variants in non-coding regions and alternative diagnoses when NPC is not confirmed. Proband sequencing is standard, with duo or trio configurations available, and a rapid pathway can deliver preliminary results in about 5 days, with final results in about 2 weeks for patients in acute neurological decline. The program is fully funded by Beren Therapeutics; no insurance is required, no claim is submitted, and post-test genetic counseling is available through GeneDx at no charge. Included at no cost: post-test genetic counseling by referral, one complimentary reanalysis (recommended no sooner than one year after the initial report), and optional ACMG secondary findings. The program offers standard GenomeDx whole genome sequencing, a rapid pathway with preliminary results in about five days, and targeted variant testing for a known familial NPC1/NPC2 variant — each available as proband, duo, or trio. Children with a confirmed NPC diagnosis are not eligible.
Niemann-Pick Disease Type C- Key genes
- NPC1NPC2
Highest-yield genes shown. Full panel: WGS, sequenced with deletion/duplication analysis.
- Test & method
- Method
- NGS
- Specimen
- Whole blood
- Turnaround
- 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.
- Eligibility
- To qualify, all of the following must be met:
- Resides in the United States
- Is 15 years of age or younger
- Parent/guardian consents to sharing de-identified data with Beren Therapeutics P.B.C.
- And one of the following:any one of
- Family history of Niemann-Pick disease type C with a confirmed molecular diagnosis
- Elevated NPC biomarker (C-triol, PPCS, PPCS:lyso-SM, or bile acid derivative in plasma or urine)
- Clinical findings — 3 or more of the following: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
- Cost & billing
There is no cost to the patient for this test. The program sponsor covers the cost of testing.
NPC GenomeComplete · Sponsored by Beren Therapeutics · Performed by GeneDx · sponsoredtesting.com. Participation does not obligate any provider or patient to recommend, purchase, prescribe, or support any Beren Therapeutics product or therapy. SponsoredTesting.com receives no protected health information.
Order this test
Ordering happens right here — no lab portal, no account, nothing to install. The requisition is prepared and printed in the same session.
Patient details stay in your browser — SponsoredTesting.com receives no PHI.
Common questions
Which patients are appropriate for the NPC GenomeComplete sponsored testing program?
NPC GenomeComplete is intended for U.S.-based pediatric patients aged 15 or younger with a clinical suspicion of Niemann-Pick disease type C who meet the program's eligibility criteria. Because the assay is whole genome sequencing rather than a targeted panel, it can also resolve cases where NPC is initially suspected but another genetic etiology is ultimately responsible.
What does the NPC GenomeComplete whole genome sequencing test cover?
The NPC GenomeComplete program uses GeneDx's GenomeDx whole genome sequencing platform. It interrogates the entire genome, including the NPC1 and NPC2 genes central to Niemann-Pick disease type C, as well as non-coding and intergenic regions that exome sequencing would miss. Proband-only sequencing is the default configuration, but duo or trio testing with parental samples is available to improve variant interpretation.
Is there a rapid turnaround option for NPC GenomeComplete testing?
Yes, NPC GenomeComplete offers a rapid testing pathway specifically for children experiencing rapid neurological decline. Preliminary results through this pathway can be available in about 5 days, with final results in about 2 weeks. A dedicated rapid test requisition form is available from GeneDx for these urgent cases.
Does ordering NPC GenomeComplete testing create any prescribing or purchase obligation?
No. NPC GenomeComplete is fully sponsored by Beren Therapeutics, and ordering the test carries no prescribing or purchase obligation of any kind. No insurance authorization is required, no claim is submitted to the patient's insurer, and the test is provided at $0 cost to the patient and ordering provider.
Is genetic counseling support available for NPC GenomeComplete results?
Yes, post-test genetic counseling is available at no charge through GeneDx's genetic counseling team as part of the NPC GenomeComplete program. This can support result interpretation and family communication, particularly in cases where the whole genome sequencing identifies secondary or unexpected findings beyond Niemann-Pick disease type C.
How do I order the NPC GenomeComplete sponsored whole genome sequencing test?
Ordering clinicians can access NPC GenomeComplete through GeneDx's provider portal or by using the program-specific test requisition form available on the GeneDx website. A separate rapid requisition form is available for urgent cases. Specimen requirements and collection kit information are detailed on GeneDx's standard ordering pages.
Which patients are eligible for NPC GenomeComplete Niemann-Pick Disease Type C genetic testing?
Patients may qualify for NPC GenomeComplete if they meet the program's eligibility criteria:
- Resides in the United States
- Age 15 years or younger
- Parent/guardian consents to sharing de-identified data with Beren Therapeutics P.B.C.
- Meets at least one of the following:
- Clinical findings — at least three (3) of the following:
- 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 (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 (>2 weeks)
- Hypotonia or failure to thrive
- Unexplained fetal ascites or non-immune hydrops fetalis
- Splenomegaly and/or hepatomegaly
- Family history of Niemann-Pick disease type C with a confirmed molecular diagnosis
- Elevated NPC biomarker (C-triol, PPCS, PPCS:lyso-SM, or bile acid derivative in plasma or urine)
- Clinical findings — at least three (3) of the following:
What patient data is shared, and with whom?
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.