GenomeDx (proband)
No-charge GenomeDx whole genome sequencing (proband) from GeneDx to identify Niemann-Pick disease type C (NPC), sponsored by Beren Therapeutics.
Accessed through the NPC GenomeComplete Sponsored Testing Program•Sponsored by Beren Therapeutics•Performed by GeneDx
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
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 as few as 48 hours 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.
When to consider this test
Patient selection
- 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)
Workflow
How to use this program
- 1
Identify eligible patients
Consider patients with suspected or confirmed ARVC, concerning arrhythmias, or relevant family history.
- 2
Order through your usual workflow
Use your standard ordering process for submitting tests to Example Genetics Lab (portal or existing workflows).
- 3
Integrate results into management
Use results to refine diagnosis, guide cascade testing, and inform monitoring and treatment decisions.
- 4
Plan follow-up and cascade testing
Determine downstream actions including surveillance, family member testing, and long-term management plans.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
Testing is performed by GeneDx, a CLIA-certified laboratory (CLIA CLIA 12D3456789). Your sample is processed using validated methods and quality controls to support reliable genetic results.
Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.
FAQ
Frequently asked 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 as few as 48 hours. 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:
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