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
This program provides no-cost access to genetic testing for U.S. patients with confirmed or suspected PBD-ZSD. The panel evaluates core PEX genes associated with peroxisome biogenesis disorders and supports diagnosis, management, and assessment of disease severity. Providers assess eligibility, coordinate specimen collection and shipping, and review both genetic and reflex biochemical results.
When to consider this test
Patient selection
- Patient has clinical features concerning for a peroxisomal disorder.
- Patient meets one of the following:
- Confirmed diagnosis of PBD-ZSD, or
- Clinical suspicion of PBD-ZSD (e.g., neurologic decline, vision or hearing impairment, hepatic dysfunction).
- Patient resides in the United States.
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
What does this program offer?
The program provides no-cost access to genetic testing for U.S. patients with confirmed or suspected PBD-ZSD. Testing evaluates essential PEX genes and includes reflex biochemical analysis when indicated.
Which patients qualify?
Eligible patients must reside in the U.S. and have a diagnosis or clinical suspicion of PBD-ZSD, such as neurologic decline, vision or hearing impairment, or hepatic dysfunction consistent with a peroxisomal disorder.
What genes are included in the panel?
The panel analyzes multiple PEX genes involved in peroxisome biogenesis, including PEX1, PEX6, PEX10, PEX12, and PEX26, which represent the most commonly affected genes.
How do I order the test?
Order testing through the PreventionGenetics TRF. Specimen kits include collection materials, labeling instructions, and an overnight prepaid shipping label.
What specimen types are accepted?
Two whole blood specimens are required. Whole blood is stable for 8 days refrigerated or at room temperature; frozen blood is stable for one month and must be shipped frozen on dry ice.
What is the turnaround time?
Genetic results return in about 21 days after receipt. Reflex biochemical results arrive from Cincinnati Children’s Hospital in approximately two weeks.
Is genetic counseling available?
Genetic counseling services for patients and families are not included. PreventionGenetics genetic counselors are available to discuss results with ordering providers at +1 715-387-0484 or [email protected].
See an issue with this program?