ExomeDx (proband)
No-charge ExomeDx whole exome sequencing (proband) from GeneDx to confirm Niemann-Pick disease type C (NPC), sponsored by Zevra Therapeutics.
Accessed through the NPC Detect Sponsored Testing Program•Sponsored by Zevra Therapeutics•Performed by GeneDx
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
NPC Detect provides no-cost whole exome sequencing via GeneDx's ExomeDx platform for US patients with a clinical suspicion of Niemann-Pick disease type C. Because the assay sequences the full exome rather than a targeted NPC1/NPC2 panel, it can identify alternative diagnoses when NPC is not confirmed, reducing the need for sequential testing. The program is fully funded by Zevra Therapeutics with no insurance claim filed and no cost passed to the patient or your practice.
When to consider this test
Patient selection
- Suspected of having Niemann-Pick disease type C (NPC)
- Must present with all three (3) of the following symptoms:
- Ataxia
- Dysphagia
- Either developmental delay, developmental regression, or intellectual disability
- Developmental delay
- Developmental regression
- Intellectual disability
- Reside in the USA
- Must not have had prior genetic testing performed by a clinical laboratory which explained the patient's symptoms
- The ordering provider must be authorized under applicable law to order genetic testing in the United States
- Must consent to sharing de-identified data with Zevra Therapeutics
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 Detect sponsored exome testing program?
NPC Detect is designed for US-based patients with a clinical suspicion of Niemann-Pick disease type C who meet the program's eligibility criteria. Because the test is whole exome sequencing, it is well suited for patients whose presentation may overlap with other lysosomal storage or neurodegenerative disorders, as the assay can identify alternative genetic etiologies beyond NPC1 and NPC2.
What does the NPC Detect test cover, and which lab performs it?
NPC Detect uses GeneDx's ExomeDx proband whole exome sequencing, analyzing approximately 20,000 genes. While the primary indication targets NPC1 and NPC2, the comprehensive exome scope enables identification of variants across the full coding genome. This breadth is particularly valuable in the differential workup of complex neurological or hepatic presentations where NPC is suspected but not confirmed.
What is the turnaround time for NPC Detect whole exome sequencing results?
NPC Detect results can be returned in as soon as two weeks. This accelerated turnaround for a whole exome test supports timely clinical decision-making, particularly in patients where early diagnosis may influence management. Reports are delivered through GeneDx's standard provider portal.
Is there any cost or prescribing obligation when ordering through NPC Detect?
There is no cost to the patient, no insurance claim filed, and no financial obligation for your practice. The program is fully sponsored by Zevra Therapeutics. Ordering through NPC Detect carries no prescribing obligation and does not commit you or your patient to any specific therapeutic pathway.
How do I order the NPC Detect sponsored exome test, and is genetic counseling available?
Ordering clinicians can access the NPC-specific test requisition form through GeneDx's provider portal or the NPC Detect program page. Specimens should be collected per GeneDx's standard specimen requirements. GeneDx also offers genetic counseling support to assist with result interpretation and family communication.
Which patients are eligible for NPC Detect Niemann-Pick Disease Type C genetic testing?
Patients may qualify for NPC Detect if they meet the program's eligibility criteria:
- Suspected of having Niemann-Pick disease type C (NPC)
- Must present with all three (3) of the following symptoms:
- Ataxia
- Dysphagia
- Either developmental delay, developmental regression, or intellectual disability
- Developmental delay
- Developmental regression
- Intellectual disability
- Reside in the USA
- Must not have had prior genetic testing performed by a clinical laboratory which explained the patient's symptoms
- The ordering provider must be authorized under applicable law to order genetic testing in the United States
- Must consent to sharing de-identified data with Zevra Therapeutics
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