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 help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
This sponsored program offers no-cost genetic testing for U.S. patients with signs of a peroxisomal disorder or suspected PBD-ZSD. The test analyzes key PEX genes that can confirm the diagnosis and guide follow-up care. Your provider will determine whether you meet the eligibility criteria.
Who this may help
Could this be right for you or your family?
- You may qualify if you have symptoms suggestive of a peroxisomal disorder.
- You may be eligible if you have a diagnosis of PBD-ZSD or if your provider suspects PBD-ZSD based on neurologic, vision, hearing, or liver-related symptoms.
- You must live in the United States.
What to expect
How the process works
- 1
Check Eligibility
Your provider will confirm whether you meet the criteria and explain what the genetic test evaluates.
- 2
Provide Your Blood Samples
Your provider orders the test, collects two blood specimens using kit instructions, labels them, completes the paperwork, and ships them overnight to the lab.
- 3
Get Your Genetic Results
Results return in about 21 days after the lab receives your specimens and forms. Your provider will review the findings with you.
- 4
Reflex Biochemical Testing
If your genetic results confirm PBD-ZSD, an additional biochemical test will be performed to measure DHCA/THCA levels.
Cost & coverage
Understanding potential costs
If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.
Quality & privacy
How your sample and information are handled
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
Common questions about this program
What is this testing program?
This program offers no-cost genetic testing for U.S. patients who may have a peroxisomal disorder, including suspected or confirmed PBD-ZSD. The test helps identify changes in PEX genes that cause these conditions.
Who is eligible?
You may qualify if you have symptoms of a peroxisomal disorder or have a diagnosis or suspected diagnosis of PBD-ZSD. You must live in the United States. Your provider will confirm whether you meet the criteria.
What does the test look for?
The test analyzes key PEX genes involved in peroxisome formation, including PEX1, PEX6, PEX10, PEX12, and PEX26. Identifying a genetic cause can confirm PBD-ZSD and guide care.
Do I have to pay for the test?
No. If you meet eligibility criteria, testing is provided at no cost through this sponsored program.
How long do results take?
Genetic test results are sent to your provider about 21 days after the lab receives your specimens. If needed, a reflex biochemical test is performed, and those results arrive in about two weeks.
Is genetic counseling available?
Genetic counseling for patients and families is not included with this program. Your provider may contact PreventionGenetics genetic counselors if they need help interpreting your results.
Questions to ask your doctor about PBD-ZSD Sequencing Panel
- Do you think this test is appropriate for me based on my symptoms and history?
- How could the results of this test change my diagnosis or treatment plan?
- What are the potential limitations of this test that I should understand?
- Should any of my family members also be tested based on my results?
- How will we follow up after the results are available?
Notes
See an issue with this program?