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 provides complimentary diagnostic testing for Mucopolysaccharidosis Type I (MPS I), including genetic and biochemical evaluation of IDUA gene variants and alpha-L-iduronidase activity. Sponsored by Sanofi and performed by Revvity Omics, Inc., the program carries no cost to the clinician or patient and places no obligation on test selection or treatment decisions. Familial variant testing is also available once a proband has been identified.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- For diagnostic testing only — not appropriate for carrier testing
- Ordered by a licensed medical professional authorized to order genetic testing
- Meets at least one of the following indications:
- Clinical suspicion of Mucopolysaccharidosis Type I
- Family history of Mucopolysaccharidosis Type I, familial variant known
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
Which patients are appropriate for Roadmap2Rare MPS I diagnostic testing?
Roadmap2Rare MPS I testing is intended for patients with a clinical suspicion of Mucopolysaccharidosis Type I based on presenting signs, symptoms, or biochemical findings. The program supports both genetic and biochemical diagnostic evaluation. Test selection remains entirely at the ordering clinician's discretion, and ordering does not carry any prescribing or treatment obligation.
What does the Roadmap2Rare diagnostic panel cover for Mucopolysaccharidosis Type I?
The Roadmap2Rare program for MPS I covers diagnostic testing related to the IDUA gene, which encodes alpha-L-iduronidase. Deficiency of this enzyme leads to accumulation of the glycosaminoglycans dermatan sulfate and heparan sulfate. The program includes both genetic and biochemical testing options, with the specific test selection determined by the ordering clinician.
Is there any cost or obligation associated with ordering MPS I testing through Roadmap2Rare?
Roadmap2Rare is fully sponsored, so there is no charge to the clinician or the patient. The program is sponsored by Sanofi and performed by Revvity Omics, Inc. Ordering testing through the program does not create any obligation regarding treatment selection, and clinicians and patients retain full independence in all care decisions.
How do I order Roadmap2Rare testing for a patient with suspected MPS I?
Clinicians can access the Roadmap2Rare program and order testing through the Revvity Omics website. The program is available to clinicians in the US. Patient and clinician identifying information is not shared with Sanofi, preserving confidentiality throughout the process.
Does Roadmap2Rare support familial variant testing after identification of an MPS I proband?
Yes, the Roadmap2Rare program sponsors familial variant testing once a proband patient with MPS I has been identified by the clinician. Because MPS I is inherited in an autosomal recessive manner, cascade testing of at-risk family members can be clinically valuable. Familial testing requests can be submitted through the Revvity Omics website at no cost.
Is patient identifying information shared with the sponsor when ordering through Roadmap2Rare?
No, the identifying information of patients and clinicians is not shared with Sanofi. The Roadmap2Rare program is designed to maintain confidentiality while providing complimentary diagnostic testing through Revvity Omics, Inc. This separation ensures that the program does not interfere with independent clinical judgment.
Which patients are eligible for Roadmap2Rare Mucopolysaccharidosis Type I (MPS I) genetic testing?
Patients may qualify for Roadmap2Rare if they meet the program's eligibility criteria:
- 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.
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