MPS Enzyme Panel
Enzyme panel measuring IDUA, IDS, NAGLU, GALNS, GLB1, ARSB, GUSB to evaluate MPS I, II, IIIB, IVA, IVB, VI, VII; reflexes to GUSB sequencing if beta-glucuronidase is low.
Accessed through the Mucopolysaccharidoses (MPS) Sponsored Testing Program•Sponsored by Ultragenyx Pharmaceutical, Inc.•Performed by Revvity Omics, Inc.
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 loved one has unexplained symptoms that could point to a mucopolysaccharidosis (MPS) disorder, this sponsored testing program can help you take the next step toward answers. The MPS Enzyme Panel checks enzyme activity linked to seven MPS types (MPS I, II, IIIB, IVA, IVB, VI, and VII) using a single test, and if a specific enzyme deficiency is found, follow-up DNA analysis may be performed automatically. The program is fully sponsored by Ultragenyx Pharmaceutical, so there is no cost to you or your family. Your doctor will order the test, walk you through the results, and discuss what they mean for your care.
Who this may help
Could this be right for you or your family?
- To qualify, all of the following must be met:
- Reason for testing — at least one of the following:
- The patient has already been diagnosed with MPS (mucopolysaccharidosis) — you'll note which type
- The patient is being screened because MPS is suspected
What to expect
How the process works
- 1
Discuss & order
Your clinician confirms the MPS pathway is right for you and places the order.
- 2
Collect sample
Follow the step-by-step instructions to provide a dried blood spot sample; your care team handles labeling and shipment.
- 3
Get results
Results go to your clinician, who reviews what they mean and next steps.
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 Revvity Omics, Inc., a CLIA-certified laboratory (CLIA 39D0673919). 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 no-cost MPS enzyme panel and what types of mucopolysaccharidoses does it screen for?
The MPS Enzyme Panel is a sponsored test that measures enzyme activity related to seven types of mucopolysaccharidoses: MPS I, MPS II, MPS IIIB, MPS IVA, MPS IVB, MPS VI, and MPS VII. Because MPS disorders share many overlapping symptoms, this single panel can help identify which specific enzyme may be deficient. If the results suggest beta-glucuronidase deficiency (linked to MPS VII), the program automatically follows up with genetic analysis of the GUSB gene. The test is performed by Revvity Omics, a specialized laboratory.
Is the mucopolysaccharidoses (MPS) enzyme panel really free, and who pays for it?
Yes, the MPS Enzyme Panel is provided at absolutely no cost to you. Ultragenyx Pharmaceutical covers the full cost of testing, so you will never receive a bill, copay, or surprise charge. Your healthcare provider simply orders the test, and the sponsor takes care of the rest.
What sample is needed for MPS enzyme testing, and how is it collected?
The MPS Enzyme Panel requires a dried blood spot, which is collected by placing a few drops of blood onto a special card. Your doctor's office can request a collection kit through the program, and the kit comes with step-by-step instructions for collection and shipping. It is a quick, straightforward process that does not require a large blood draw.
How long does it take to get results from the mucopolysaccharidoses (MPS) enzyme panel?
Results from the MPS Enzyme Panel are typically available in about 3 days after the laboratory receives your sample. Your doctor will review the results with you and explain what they mean, including whether any additional testing or next steps are recommended. The fast turnaround can help reduce the stressful waiting period that many families experience.
Is genetic counseling available with the free MPS testing program?
Your ordering clinician will review all results with you and help you understand what they mean for you or your child. If the results suggest an MPS diagnosis or if follow-up genetic analysis is performed, your doctor can discuss whether a referral to a genetic counselor would be helpful. Genetic counselors specialize in explaining complex test results and can guide families through care decisions.
Who qualifies for Mucopolysaccharidoses (MPS) mucopolysaccharidoses (MPS) genetic testing?
Patients may qualify for Mucopolysaccharidoses (MPS) if they meet the program's eligibility criteria:
- You have symptoms consistent with MPS VII (Sly syndrome) or another MPS disorder.
- Your clinician suspects an MPS disorder and recommends testing.
- You can provide a dried blood spot sample for the enzyme panel.
- You understand that if β-glucuronidase is low, GUSB gene sequencing may be performed as part of this no-charge program.
Questions to ask your doctor about MPS Enzyme 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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