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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
The Roadmap2Rare Diagnostic Program provides complimentary genetic and biochemical testing for patients with suspected Fabry disease, removing a common barrier to timely diagnosis of this X-linked lysosomal storage disorder. Sponsored by Sanofi and performed by Revvity Omics, the program also supports familial variant testing once a proband has been identified. Test selection and all treatment decisions remain entirely at the clinician's discretion, and patient and clinician identifying information is not shared with the sponsor.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- For diagnostic testing only — not appropriate for carrier testing
- Ordered by a licensed medical professional authorized to order genetic testing
- Meets at least one of the following indications:
- Clinical suspicion of Fabry disease
- Family history of Fabry disease, familial variant known
Workflow
How to use this program
- 1
Select & order
Assess clinical fit (e.g., suspected Pompe/NBS flag) and submit the Roadmap2Rare requisition.
- 2
Collect & ship
Collect per kit instructions (e.g., DBS for enzyme; panel as directed) and ship to Revvity.
- 3
Review results
Review the report, counsel the family, and, if enzyme-deficient, note reflex sequencing status.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
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
Frequently asked questions
Which patients are appropriate for Fabry disease testing through the Roadmap2Rare program?
The Roadmap2Rare Diagnostic Program is designed for patients with clinical suspicion of Fabry disease, an X-linked disorder caused by mutations in the GLA gene resulting in deficiency or absence of lysosomal alpha-galactosidase A activity. The program also supports familial variant testing for relatives of an identified Fabry proband. Clinicians determine the appropriate test selection based on individual patient presentation.
What testing does Roadmap2Rare offer for Fabry disease diagnosis?
Roadmap2Rare provides sponsored genetic and biochemical diagnostic testing for Fabry disease, performed by Revvity Omics. The program is designed to address unmet diagnostic testing needs for this lysosomal storage disorder. Familial variant testing is also available once a proband patient has been identified. Additionally, the Fabry Find Tool is available to assist clinicians in building family trees after proband identification.
Is there any cost or prescribing obligation when ordering Fabry disease testing through Roadmap2Rare?
There is no cost to the clinician or patient for Fabry disease testing through the Roadmap2Rare Diagnostic Program. The program is fully sponsored by Sanofi and performed by Revvity Omics. Ordering the test carries no prescribing or treatment obligation, and all clinical decisions remain at the discretion of the healthcare professional.
Is patient information shared with the sponsor when ordering Roadmap2Rare Fabry disease testing?
No, identifying information of patients and clinicians is not shared with Sanofi when testing is ordered through the Roadmap2Rare Diagnostic Program. The program is designed to support independent clinical judgment without interference in testing or treatment decisions. This separation ensures that the diagnostic process remains fully at the clinician's discretion.
How do I order Fabry disease diagnostic testing through the Roadmap2Rare program?
Fabry disease testing through Roadmap2Rare is accessed via the Revvity Omics ordering portal. The program is available to clinicians in the US and provides sponsored genetic and biochemical testing for suspected Fabry disease. Clinicians select the appropriate test based on their clinical assessment, and the program covers the full cost of testing.
Which patients are eligible for Roadmap2Rare Fabry Disease genetic testing?
Patients may qualify for Roadmap2Rare if they meet the program's eligibility criteria:
- Clinical suspicion of Fabry disease based on symptoms, presumptive positive NBS, or relevant family history.
- Males: order α-galactosidase A activity with reflex to GLA sequencing if deficient.
- Females: initiate with GLA sequencing.
- All patients: include lyso-Gl3 quantitation as part of the evaluation.
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