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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
This Ultragenyx-sponsored program provides a no-cost MPS Enzyme Panel for patients with suspected mucopolysaccharidosis or those requiring confirmatory testing after clinical diagnosis or newborn screening. A single dried blood spot submission evaluates enzymatic activity across seven MPS subtypes, with automatic reflex to GUSB molecular analysis when beta-glucuronidase deficiency is identified. Testing is performed by Revvity Omics, and ordering clinicians have no obligation to recommend, prescribe, or use any Ultragenyx product.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- Clinical indication — at least one of the following:
- Patient has been previously diagnosed with MPS (specify type)
- Patient is being screened for suspected MPS
Workflow
How to use this program
- 1
Select & order
Choose the Ultragenyx-sponsored MPS enzyme panel per clinical suspicion; contact Client Services if needed.
- 2
Collect & ship
Request a DBS pack (or use site instructions), collect per DBS guidance, label the card with patient name/DOB, and ship per program guidelines.
- 3
Review & follow up
Interpret the enzyme panel; if β-glucuronidase is deficient, proceed with reflex GUSB sequencing per program policy and counsel the family.
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 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
Frequently asked questions
Which patients are appropriate for the sponsored mucopolysaccharidoses (MPS) enzyme panel?
The MPS Enzyme Panel is intended for patients who are clinically suspected of having an MPS disorder or who have been flagged through newborn screening and require follow-up evaluation. It is also available for patients with a clinical MPS diagnosis who need confirmatory enzyme testing. The program is not designed for carrier screening. Ordering clinicians should confirm that patients meet the program's criteria before submitting a requisition.
What does the MPS Enzyme Panel cover and what methodology is used?
The MPS Enzyme Panel measures biochemical enzymatic activity for seven MPS subtypes: MPS I, MPS II, MPS IIIB, MPS IVA, MPS IVB, MPS VI, and MPS VII. When beta-glucuronidase deficiency is detected, the program reflexes to molecular analysis of the GUSB gene. This approach pairs first-line enzymatic evaluation with targeted confirmatory sequencing in a single testing pathway, performed by Revvity Omics.
What specimen is required for the sponsored MPS enzyme testing program, and how do I obtain a kit?
The MPS Enzyme Panel requires a dried blood spot (DBS) specimen. Collection kits, including DBS cards, sample collection instructions, and shipping materials, can be requested directly through the program. The kit is shipped to your practice at no charge, and completed specimens are sent to Revvity Omics using the prepaid shipping included in the kit.
What is the turnaround time for the mucopolysaccharidoses (MPS) enzyme panel results?
The MPS Enzyme Panel has a turnaround time of approximately 3 days from specimen receipt at Revvity Omics. This rapid turnaround supports timely clinical decision-making, particularly for patients flagged by newborn screening where early intervention may be relevant.
Is there any prescribing or purchase obligation when ordering the Ultragenyx-sponsored MPS testing?
There is no obligation whatsoever. Clinicians who order through the Ultragenyx MPS Testing Program are not required to recommend, purchase, order, prescribe, promote, administer, or support any Ultragenyx product. The program is fully sponsored by Ultragenyx Pharmaceutical, with all testing costs covered. Additionally, providers should not seek reimbursement from any third party, including federal healthcare programs, for testing performed under this program.
Does Ultragenyx receive patient-identifiable information from the MPS testing program?
Ultragenyx receives only de-identified and anonymized data from the MPS Testing Program. At no time does Ultragenyx have access to patient-identifiable information. This structure preserves patient privacy while supporting the sponsor's broader understanding of MPS disease prevalence.
Which patients are eligible for Mucopolysaccharidoses (MPS) mucopolysaccharidoses (MPS) genetic testing?
Patients may qualify for Mucopolysaccharidoses (MPS) if they meet the program's eligibility criteria:
- Clinical suspicion of MPS VII or another MPS disorder based on signs/symptoms (and prior evaluation as applicable).
- Appropriate for enzyme-first evaluation using a dried blood spot MPS enzyme panel.
- Reflex molecular testing plan: if β-glucuronidase deficiency is detected, proceed to GUSB sequencing (± CNV analysis) for confirmation.
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