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
Roadmap2Rare is a complimentary testing program in Canada that helps evaluate rare diseases using genetic and biochemical tests. It’s offered by Revvity Omics in collaboration with Sanofi Canada and is available through your healthcare provider. Your clinician will decide which test is appropriate for you.
Who this may help
Could this be right for you or your family?
- 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.
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 this test for?
It helps check for Pompe disease by measuring the GAA enzyme; if the level is low, a GAA gene test may be done.
Who can get this test?
People with symptoms that suggest Pompe disease or newborns flagged on a newborn screening test.
How is the sample collected?
A dried blood spot (DBS) card is included in a kit that can be mailed to you or your healthcare provider; your care team will guide you.
How long do results take?
The enzyme test typically takes about 1–2 weeks; if gene testing is needed, it can take a few weeks longer.
Is there a faster option for newborns?
Yes. Expedited GAA sequencing (≈7 days) may be available for infants who qualify.
Does this test check if I’m just a carrier?
No. This pathway is not for carrier testing; it’s meant to evaluate suspected Pompe disease.
Who gets the results?
Results are sent to your clinician, who will explain what they mean and next steps.
What does it cost?
The program is complimentary for eligible patients in Canada; your clinician can confirm details.
Where is the testing performed?
Testing is performed by Revvity Omics in collaboration with Sanofi Canada through the Roadmap2Rare program.
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
See an issue with this program?