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 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
- Suspected Pompe disease based on clinical signs/symptoms.
- Presumptive positive newborn screen for Pompe disease (expedited sequencing available for eligible infants).
- Not for carrier testing.
- Test pathway: acid α-glucosidase (GAA) enzyme activity with reflex to GAA gene sequencing if enzyme deficiency is detected.
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 order the Pompe pathway?
For patients with clinical features suggestive of Pompe disease or presumptive positive NBS requiring confirmatory evaluation.
What is the testing algorithm?
Primary GAA enzyme activity (DBS) with reflex to comprehensive GAA sequencing (±CNV) if enzyme deficiency is detected.
Which specimens are accepted?
DBS per program kit instructions for the enzyme assay; sequencing specimen requirements follow the reflex lab guidance.
What are the typical TATs?
Enzyme activity ~12 days; reflex GAA sequencing ~3–5 weeks. An expedited 7-day sequencing option may be available for qualifying infants.
Is this appropriate for carrier screening?
No. The Roadmap2Rare Pompe pathway is not intended for carrier testing.
How do I request kits or order?
Use the Roadmap2Rare ordering links/kit request forms; bilingual resources (EN/FR) are available.
How are results reported?
Results are reported to the ordering provider; critical/abnormal results may be phoned out per lab policy, with a written report to follow.
Will all variants be reported?
Sequencing follows the program’s reporting policy (pathogenic/likely pathogenic; VUS handled per lab standards); enzyme results include activity levels and interpretation.
Is mobile phlebotomy available?
For DBS collections, mobile phlebotomy may be available in select locations; confirm availability when ordering.
Are there billing considerations?
The pathway is sponsored for eligible Canadian patients; no patient billing is expected for covered services within the program scope.
See an issue with this program?