Fabry Disease Test
Measures α-galactosidase A (GLA) enzyme activity; if low, reflexes to GLA gene sequencing (±CNV) to evaluate Fabry disease.
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?
- You have symptoms consistent with Fabry disease.
- You received a presumptive positive newborn screen for Fabry disease.
- You have a family history of Fabry disease or symptoms that fit the condition.
- Testing may include an enzyme test, GLA gene sequencing, and lyso-Gl3 measurement, as appropriate for you.
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 program for?
It helps evaluate Fabry disease using tests that measure alpha-galactosidase A (GLA) enzyme activity, analyze the GLA gene, and quantify lyso-Gl3.
Who is it for?
People with symptoms that suggest Fabry disease, newborns flagged on screening, or those with a family history.
How does the testing work?
Your care team selects the appropriate tests; in general, males often start with an enzyme test and females often start with gene testing.
What is lyso-Gl3?
It’s a blood biomarker associated with Fabry disease that can support diagnosis and monitoring.
How long do results take?
Timing varies by test type; your clinician will tell you what to expect and share your results.
Will this tell me if I’m just a carrier?
This pathway is intended to evaluate suspected Fabry disease; ask your clinician about carrier testing if that’s your goal.
What does it cost?
Testing in this program is complimentary in Canada for eligible patients.
Who explains the results?
Results go to your clinician, who will review what they mean and discuss next steps.
Questions to ask your doctor about Fabry 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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