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
If your child or a family member has symptoms that suggest a peroxisomal disorder, or if PBD-Zellweger Spectrum Disorder has already been suspected or diagnosed, the Scout program can help. It provides genetic testing at no cost to you, covering a panel of 13 PEX genes that play a key role in how the body builds and maintains peroxisomes. Getting a clear genetic answer can confirm a diagnosis, help your care team understand disease severity, and shape the plan for ongoing management. The program is sponsored by Mirum Pharmaceuticals, and the testing is performed by Prevention Genetics, a specialized genetics laboratory.
Who this may help
Could this be right for you or your family?
- To qualify, all of the following must be met:
- At least one of the following is true:
- Diagnosed with peroxisomal biogenesis disorder-Zellweger spectrum disorder (PBD-ZSD)
- A doctor suspects PBD-ZSD (for example, worsening of the nervous system, vision, hearing, or liver)
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 the Scout genetic testing program for PBD-Zellweger Spectrum Disorder?
The Scout program provides no-cost genetic testing for people in the United States who have been diagnosed with, or are suspected of having, Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder. The test is a 13-gene panel that looks at PEX genes linked to peroxisomal disorders. Results can help confirm a diagnosis and give your medical team the information they need to guide your care.
Is the Scout PBD-ZSD genetic test really free, and who pays for it?
Yes, the Scout program is completely free to you and your family. Mirum Pharmaceuticals sponsors the program and covers the full cost of testing. You will not receive a bill, and there is no copay or deductible. Your only step is to work with your doctor, who will determine whether the program is right for you and coordinate the process.
What kind of sample is needed for the Scout PBD-ZSD genetic test?
The Scout PBD-ZSD genetic test requires a whole blood sample. Your doctor's office will order a free collection kit, draw the blood, and send it to the lab on your behalf. You do not need to arrange shipping or visit a separate lab.
How long does it take to get results from the Scout PBD-Zellweger Spectrum Disorder test?
Results from the Scout PBD-ZSD testing program are typically available in about 2 to 3 weeks after the lab receives your blood sample. Your ordering provider will review the results with you and discuss what they mean for your care plan.
Can the Scout PBD-ZSD test help if my child already has a peroxisomal disorder diagnosis?
Yes. Even if your child has already been diagnosed with PBD-Zellweger Spectrum Disorder, genetic testing through the Scout program can identify the specific PEX gene changes involved. This information can help your care team better understand disease severity and plan appropriate follow-up, including monitoring and management strategies.
Will I have access to genetic counseling with the Scout PBD-ZSD testing program?
Your ordering provider will review your genetic test results and can help you understand what they mean for your family. If you have additional questions about the results, ask your doctor whether a referral to a genetic counselor would be helpful. The Scout program is designed to support both diagnosis and ongoing care decisions.
Who qualifies for Scout Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder genetic testing?
Patients may qualify for Scout if they meet the program's eligibility criteria:
- 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.
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
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