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 help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
If you or your child may have Mucopolysaccharidosis Type I (MPS I), also called Hurler-Scheie syndrome, getting the right diagnosis is an important first step. The Roadmap2Rare program covers the cost of diagnostic testing for MPS I so there is no charge to you or your family. Testing is performed by Revvity Omics, Inc., and your healthcare provider will decide which tests are right for your situation. An early, accurate diagnosis can help you and your care team understand what is happening and explore the options available to you.
Who this may help
Could this be right for you or your family?
- To qualify, all of the following must be met:
- This program is for diagnostic testing only — it is not for carrier testing
- The test is ordered by a doctor (a licensed provider allowed to order genetic testing)
- At least one of the following is true:
- A doctor suspects the patient may have mucopolysaccharidosis type I (MPS I — Hurler, Hurler/Scheie, or Scheie syndrome)
- MPS I runs in the family and the specific family variant is already known
What to expect
How the process works
- 1
Choose & order
Your clinician decides if this test fits your situation and submits the order.
- 2
Collect & ship
Provide the sample using the kit and instructions; the clinic or lab ships it to Revvity.
- 3
Get results
Results go to your clinician, who explains 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 the Roadmap2Rare program for Mucopolysaccharidosis Type I (MPS I)?
Roadmap2Rare is a sponsored diagnostic testing program that helps evaluate whether a person has Mucopolysaccharidosis Type I, a rare lysosomal storage disorder caused by changes in the IDUA gene. The program offers both genetic and biochemical testing performed by Revvity Omics, Inc. Your healthcare provider can order testing through Roadmap2Rare if they suspect MPS I based on your symptoms or medical history.
Is testing for MPS I through Roadmap2Rare really free?
Yes, the Roadmap2Rare program is fully sponsored, which means there is no cost to you or your family for diagnostic testing. The program's sponsor covers the entire cost of testing, so you will not receive a bill, a copay, or any out-of-pocket charge. Your doctor simply needs to order the test through the program.
How does my doctor order free MPS I testing through Roadmap2Rare?
Your doctor can access the Roadmap2Rare program through the Revvity Omics website to request testing. The decision about which tests to order is entirely up to your healthcare provider based on your individual situation. If you think MPS I testing might be right for you, talk to your doctor about whether the Roadmap2Rare program is a good fit.
What does the Roadmap2Rare MPS I test look for?
The Roadmap2Rare program for MPS I looks for changes in the IDUA gene, which provides instructions for making an enzyme called alpha-L-iduronidase. When this enzyme is not working properly, certain substances called glycosaminoglycans build up in the body and can cause a range of health problems. The program can include both genetic and biochemical testing to help your doctor reach a clear diagnosis.
Can family members also get free testing for MPS I through Roadmap2Rare?
Roadmap2Rare does offer familial variant testing after a healthcare provider identifies an initial patient (called a proband) with a confirmed diagnosis. Because MPS I is inherited in an autosomal recessive manner, testing family members can be important. Your doctor can request family testing through the Revvity Omics website at no cost to your family.
Is genetic counseling available with Roadmap2Rare MPS I testing?
Genetic counseling can be a valuable part of any genetic testing process, and your healthcare provider can help connect you with appropriate counseling resources. Your doctor will guide you through what your test results mean and help you understand next steps. If you have questions about counseling options, ask your care team for guidance.
Who qualifies for Roadmap2Rare Mucopolysaccharidosis Type I (MPS I) genetic testing?
Patients may qualify for Roadmap2Rare if they meet the program's eligibility criteria:
- You have symptoms consistent with MPS I.
- You received a presumptive positive newborn screen for MPS I.
- Not for carrier testing.
- How it works: the test measures alpha-L-iduronidase (IDUA) enzyme activity; if low, it reflexes to IDUA gene sequencing.
Questions to ask your doctor about Mucopolysaccharidosis I (MPS I)
- 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
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