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
Fabry disease can be difficult to diagnose, but getting the right answer matters. The Roadmap2Rare Diagnostic Program offers no-cost genetic and biochemical testing for Fabry disease, so you never have to worry about a bill for this testing. The program is sponsored by Sanofi and performed by Revvity Omics, and your doctor will decide which tests are right for your situation. If a family member has already been diagnosed with Fabry disease, the program can also support testing for other relatives who may carry the condition.
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 Fabry disease
- Fabry disease 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 testing program for Fabry disease?
Roadmap2Rare is a sponsored diagnostic program that provides genetic and biochemical testing for Fabry disease. It is performed by Revvity Omics and sponsored by Sanofi, and it is designed to help people who may have Fabry disease get a clear diagnosis. The program also supports family testing when a relative has already been identified with the condition.
Is Fabry disease testing through Roadmap2Rare really free?
Yes, Fabry disease testing through the Roadmap2Rare Diagnostic Program is provided at no cost to you. The sponsor, Sanofi, covers the full cost of testing, so there is no bill, no copay, and no out-of-pocket expense. You simply need your doctor to order the test on your behalf.
How do I get Fabry disease testing through the Roadmap2Rare program?
Your doctor or healthcare provider orders the Fabry disease test for you through the Roadmap2Rare Diagnostic Program. You cannot order the test on your own, but you can ask your doctor if this no-cost testing option is right for you. Your doctor will choose which specific tests are most appropriate based on your symptoms and medical history.
Can my family members also get tested for Fabry disease at no cost?
Yes, the Roadmap2Rare Diagnostic Program supports family testing after a relative has been identified as having Fabry disease. Because Fabry disease is genetic, other family members may also carry the condition. Your doctor can request familial variant testing through the program at no cost to your family.
Is genetic counseling available through the Roadmap2Rare Fabry disease testing program?
The Roadmap2Rare program provides diagnostic testing for Fabry disease, and your healthcare provider will guide you through what your results mean. If you have questions about the genetic aspects of your results or what they mean for your family, your doctor can help connect you with appropriate support and resources.
Who qualifies for Roadmap2Rare Fabry Disease genetic testing?
Patients may qualify for Roadmap2Rare if they meet the program's eligibility criteria:
- 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.
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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