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
Roadmap2Rare (Canada) provides complimentary genetic and biochemical testing for suspected rare diseases, delivered by Revvity Omics in collaboration with Sanofi Canada. The program is designed to address unmet testing needs and is available to Canadian clinicians. Test selection and treatment decisions remain at the discretion of the healthcare professional.
When to consider this test
Patient selection
- 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.
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
When should I consider ordering?
When clinical features suggest Fabry disease, for presumptive positive NBS, or in the setting of relevant family history.
What is the general testing approach?
Use sex-aware testing: males typically begin with alpha-galactosidase A activity and reflex to GLA sequencing if deficient; females generally start with GLA sequencing. Include lyso-Gl3 for both.
Why lyso-Gl3 for all patients?
It supports clinical assessment alongside enzyme activity and molecular findings and may help with interpretation and follow-up.
What about sensitivity in females?
Because enzyme activity can be normal in heterozygous females, prioritize GLA sequencing and include lyso-Gl3.
How are results reported?
Results are issued to the ordering provider with interpretive comments appropriate to the assay performed.
Typical turnaround times?
TAT varies by assay; set expectations with patients based on your local program guidance.
Is this pathway suitable for carrier screening?
No; it is intended for evaluation of suspected Fabry disease. Order carrier testing separately if needed.
How should I use these results clinically?
Integrate enzyme, lyso-Gl3, and molecular findings with phenotype and family history; manage or refer per current guidelines.
Any special considerations for newborns?
For presumptive positive NBS, proceed with confirmatory evaluation using the program’s assays and timelines appropriate to clinical urgency.
See an issue with this program?