Mucopolysaccharidosis I (MPS I)
Measures alpha-L-iduronidase (IDUA) enzyme activity; if low, reflexes to IDUA gene sequencing to evaluate MPS I.
Accessed through the Roadmap2Rare Sponsored Testing Program•Sponsored by Sanofi•Performed by Revvity Omics, Inc.
Designed to support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
Roadmap2Rare (Canada) provides complimentary genetic and biochemical testing for suspected rare diseases, delivered by Revvity Omics in collaboration with Sanofi Canada. The program is designed to address unmet testing needs and is available to Canadian clinicians. Test selection and treatment decisions remain at the discretion of the healthcare professional.
When to consider this test
Patient selection
- Clinical suspicion of MPS I based on signs/symptoms, or presumptive positive NBS for MPS I.
- Order alpha-L-iduronidase enzyme activity with reflex to IDUA sequencing when deficiency is detected.
- Not intended for carrier screening; use separate workflows for carrier evaluation.
Workflow
How to use this program
- 1
Select & order
Assess clinical fit (e.g., suspected Pompe/NBS flag) and submit the Roadmap2Rare requisition.
- 2
Collect & ship
Collect per kit instructions (e.g., DBS for enzyme; panel as directed) and ship to Revvity.
- 3
Review results
Review the report, counsel the family, and, if enzyme-deficient, note reflex sequencing status.
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
When should I order?
For patients with clinical features consistent with MPS I or presumptive positive NBS requiring confirmatory evaluation.
What is the testing algorithm?
Primary alpha-L-iduronidase (IDUA) enzyme activity with reflex to comprehensive IDUA sequencing when enzyme deficiency is detected.
Why start with enzyme activity?
It provides a functional readout for IDUA; molecular testing confirms and characterizes variants when activity is low.
Any role for carrier testing here?
No. This pathway is not intended for carrier screening; use separate workflows if carrier status is the clinical question.
How are results reported?
The lab reports enzyme activity with interpretation and, if performed, IDUA sequencing findings according to standard reporting policies.
Typical turnaround times?
TAT varies by assay and program guidance; set expectations with families accordingly.
How should I integrate results?
Interpret enzyme and molecular findings in the context of phenotype, family history, and current guidelines; consider genetics and specialty referral as needed.
Any scope limitations I should note?
This pathway is not designed to resolve all complex structural variants or to serve as carrier screening; use additional testing as clinically indicated.
See an issue with this program?