PBD-ZSD Sequencing Panel
Genetic test analyzing key PEX genes—including PEX1, PEX6, PEX10, PEX12, and PEX26—to help identify peroxisome biogenesis disorders within the Zellweger spectrum.
Accessed through the Scout Sponsored Testing Program•Sponsored by Mirum Pharmaceuticals•Performed by Prevention Genetics
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The Scout program, sponsored by Mirum Pharmaceuticals, provides no-cost NGS-based sequencing of 13 PEX genes for U.S. patients with diagnosed or clinically suspected Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder. Testing supports molecular confirmation, severity assessment, and management planning. The panel is performed by Prevention Genetics, and results include both genetic and reflex biochemical findings to give a more complete clinical picture. Ordering carries no prescribing or purchase obligation.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Meets at least one of the following:
- Diagnosed with peroxisomal biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD)
- Clinical suspicion of PBD-ZSD (e.g., neurological, vision, hearing, or hepatic deterioration)
Workflow
How to use this program
- 1
Confirm Eligibility
Verify the patient meets criteria for PBD-ZSD testing and discuss the purpose and process of testing.
- 2
Order, Collect, and Ship
Order the test, collect two blood specimens, complete the TRF, label tubes with two identifiers and collection date, and ship overnight Mon–Fri with the prepaid label. Whole blood is stable 8 days; frozen blood ships on dry ice.
- 3
Review Genetic Results
Results return in ~21 days after receipt of specimens and documentation. Review findings with the patient and incorporate them into care.
- 4
Manage Reflex Biochemical Testing
If the genetic test is positive, a reflex DHCA/THCA biochemical analysis will automatically be performed to assess atypical bile acids.
- 5
Review Biochemical Results
If DHCA/THCA levels are elevated, Cincinnati Children’s Hospital will send results in ~2 weeks.
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 Prevention Genetics, a CLIA-certified laboratory (CLIA 52D2065132) and College of American Pathologists (CAP) certified laboratory (CAP 7185561). 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 Scout PBD-ZSD sponsored testing program?
The Scout program is designed for U.S.-based patients who have a confirmed diagnosis of PBD-Zellweger Spectrum Disorder or who present with clinical features suggestive of a peroxisomal biogenesis disorder. The ordering clinician determines whether a patient meets the program's eligibility criteria. There is no cost to the patient or the ordering practice.
What genes and methodology does the Scout PBD-ZSD sequencing panel cover?
The Scout PBD-ZSD Sequencing Panel analyzes 13 PEX genes using next-generation sequencing. The panel targets genes associated with peroxisome biogenesis disorders and is intended to support molecular diagnosis, clarify disease severity, and inform clinical management. Testing is performed by Prevention Genetics.
What specimen is required and how is the kit obtained for the Scout PBD-ZSD test?
The Scout PBD-ZSD panel requires a whole blood specimen. Providers can order a sample collection kit directly through Prevention Genetics. The kit includes materials and shipping for specimen transport to the laboratory. There is no charge to the patient or the ordering practice.
What is the turnaround time for the Scout PBD-ZSD panel results?
Results from the Scout PBD-ZSD Sequencing Panel are typically returned within 2 to 3 weeks of specimen receipt at Prevention Genetics. Reports include genetic sequencing findings as well as reflex biochemical results when applicable, providing a comprehensive basis for clinical decision-making.
Is there any prescribing or purchase obligation when ordering through the Scout PBD-ZSD program?
There is no prescribing or purchase obligation associated with ordering through the Scout program. Mirum Pharmaceuticals sponsors the testing and covers the full cost. The program is designed solely to support diagnostic confirmation and clinical management for patients with suspected or confirmed PBD-Zellweger Spectrum Disorder.
Does the Scout PBD-ZSD program include genetic counseling support for providers?
The Scout program is supported by the Prevention Genetics team, which can assist with test selection, ordering logistics, and results interpretation. Providers are encouraged to contact Prevention Genetics directly for questions about specific cases or to coordinate follow-up genetic counseling for patients and families.
Which patients are eligible for Scout Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder genetic testing?
Patients may qualify for Scout if they meet the program's eligibility criteria:
- Patient has clinical features concerning for a peroxisomal disorder.
- Patient meets one of the following:
- Confirmed diagnosis of PBD-ZSD
- Clinical suspicion of PBD-ZSD (e.g., neurologic decline, vision or hearing impairment, hepatic dysfunction).
- Patient resides in the United States.
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