Pompe Disease Test
Measures acid α-glucosidase (GAA) activity; if deficient, reflexes to GAA sequencing (CNV as needed). Expedited 7-day sequencing available for at-risk infants.
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
Pompe disease is a rare genetic condition that can affect muscles and breathing, and getting a clear diagnosis is an important first step toward understanding your options. The Roadmap 2 Rare program, sponsored by Sanofi Canada, provides diagnostic testing for Pompe disease at no cost to you or your family. Your doctor orders the test through the program, and the testing is performed by Revvity Omics, a specialized laboratory. You do not need to worry about a bill for this testing, because the program's sponsor covers the full cost.
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 Pompe disease
- The patient is suspected to have infantile-onset Pompe disease (IOPD), or is confirming a newborn-screening result
- Pompe disease runs in the family
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 Roadmap 2 Rare program for Pompe disease?
Roadmap 2 Rare is a sponsored diagnostic testing program that helps people who may have Pompe disease get the testing they need to reach a diagnosis. The program is sponsored by Sanofi Canada and the testing is performed by Revvity Omics. Your healthcare provider can order the test on your behalf if Pompe disease is suspected.
Is Pompe disease testing through Roadmap 2 Rare really free?
Yes, diagnostic testing for Pompe disease through Roadmap 2 Rare is provided at no cost to you. Sanofi Canada sponsors the program and covers the full cost of the testing. You will not receive a bill, and there is no copay or deductible to worry about.
How do I get Pompe disease testing through the Roadmap 2 Rare program?
Your doctor or healthcare provider is the one who orders the test for you. If your clinician suspects Pompe disease, they can access the Roadmap 2 Rare program through the Revvity Omics website to request testing. Talk to your doctor if you have symptoms or a family history that may point to Pompe disease.
Can family members also get tested for Pompe disease through Roadmap 2 Rare?
Yes, the Roadmap 2 Rare program also sponsors familial variant testing after a family member has been identified with Pompe disease. Once a clinician identifies a patient with the condition, relatives can be tested for the same genetic variant at no cost through the program. Your doctor can arrange this through Revvity Omics.
Does the Roadmap 2 Rare Pompe disease test affect my treatment choices?
No. The Roadmap 2 Rare program is designed purely to help with diagnosis and does not influence treatment decisions. Your healthcare provider maintains full independence in deciding what testing and treatment options are right for you. The program simply removes the cost barrier to getting a diagnosis.
Who qualifies for Roadmap 2 Rare Pompe Disease genetic testing?
Patients may qualify for Roadmap 2 Rare if they meet the program's eligibility criteria:
- For people whose symptoms suggest Pompe disease (your clinician suspects it based on your health and exam).
- For newborns flagged on a Pompe screening test (faster follow-up testing is available for eligible infants).
- Not for carrier testing (it doesn’t check if someone is only a carrier).
- How it works: we measure the GAA enzyme (acid α-glucosidase). If the level is low, a GAA gene test is done to look for changes in the gene.
Questions to ask your doctor about Pompe Disease Test
- 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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