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
Ultragenyx’s no-cost MPS pathway supports evaluation of suspected MPS I, II, IIIB, IVA, IVB, VI, and VII via an enzyme panel with reflex molecular testing as appropriate. Performed by Revvity Omics, the program is intended for symptomatic or NBS-flagged patients and is not designed for carrier screening.
When to consider this test
Patient selection
- 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.
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
What is this program for?
A sponsored, no-cost testing pathway for qualifying patients that supports evaluation of suspected MPS (including MPS VII) via DBS enzyme analysis with reflex molecular testing when indicated.
What is the algorithm?
DBS-based MPS enzyme panel; if β-glucuronidase is deficient, reflex to GUSB sequencing (± CNV analysis) per program policy.
Which disorders are covered by the panel?
Common panels include MPS I, II, IIIB, IVA, IVB, VI, and VII.
How should I use results?
Integrate enzyme activities with phenotype and molecular findings to confirm diagnosis, guide management, and inform family testing.
How are VUS handled?
Reported per lab policy; counsel on uncertainty and potential reclassification.
Turnaround times?
Enzyme assays are generally rapid (a few days); sequencing requires more time (typically 3 weeks). Set expectations with families based on current guidance.
Appropriate specimen?
DBS per collection instructions; ensure proper labeling and shipping.
Is this pathway intended for carrier screening?
No. Use separate carrier or targeted familial testing workflows if carrier status is the question.
Any program limitations to note?
Not designed to detect every structural/complex variant; correlate with clinical findings and consider additional testing when indicated.
See an issue with this program?