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
This no-cost program helps evaluate mucopolysaccharidoses (MPS I, II, IIIB, IVA, IVB, VI, VII) using enzyme testing, with follow-up DNA analysis when indicated. Testing is performed by Revvity Omics in collaboration with Ultragenyx. Your clinician will determine if this pathway is appropriate and will review results and next steps with you.
Who this may help
Could this be right for you or your family?
- 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.
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 this program for?
It is a no-cost, sponsored testing program for qualifying patients that helps evaluate mucopolysaccharidoses (MPS) using a blood-spot enzyme test, with DNA testing when indicated.
Who is it for?
People with symptoms suggestive of an MPS disorder, including MPS VII, or newborns flagged on screening.
How does the testing work?
The lab measures several enzyme activities linked to MPS. If β-glucuronidase is low, GUSB gene sequencing may be performed.
What sample is needed?
Usually a dried blood spot (DBS) collected using a simple kit; your care team will guide you.
How long do results take?
Enzyme results are typically fast; DNA testing takes longer. Your clinician will set expectations.
Will this tell me if I’m just a carrier?
No. This pathway evaluates suspected disease, not carrier status.
Who receives my results?
Your clinician gets the report and will explain what it means and next steps.
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
See an issue with this program?