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
Roadmap 2 Rare offers complimentary genetic and biochemical diagnostic testing for suspected Pompe disease (acid maltase deficiency), removing cost as a barrier to timely diagnosis of this lysosomal storage disorder. The program is sponsored by Sanofi Canada and performed by Revvity Omics. Test selection and all treatment decisions remain entirely at the clinician's discretion, and ordering through the program carries no prescribing or purchase obligation.
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 Pompe disease
- Suspected infantile-onset Pompe disease (IOPD) and newborn screening confirmation only
- Family history of Pompe disease
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 Pompe disease testing through Roadmap 2 Rare?
Roadmap 2 Rare is designed for patients in whom Pompe disease (GSDII) is clinically suspected. The program provides diagnostic testing for this and several other lysosomal storage disorders. If a patient meets the program's criteria, testing can be ordered at no cost through Revvity Omics.
What types of diagnostic testing does Roadmap 2 Rare offer for Pompe disease?
The Roadmap 2 Rare program provides both genetic and biochemical diagnostic testing for Pompe disease. Pompe disease involves mutations in the GAA gene leading to deficient or absent alpha-glucosidase enzyme activity. The specific test or combination of tests is selected at the clinician's discretion.
Is there a cost to the clinician or patient for Pompe disease testing through Roadmap 2 Rare?
No. The Roadmap 2 Rare Diagnostic Program is fully sponsored by Sanofi Canada and provided through Revvity Omics at no charge to the ordering clinician or the patient. There is no billing, no copay, and no hidden cost associated with this testing.
How do I order Pompe disease testing through the Roadmap 2 Rare program?
Clinicians can access Roadmap 2 Rare testing by visiting the Revvity Omics website dedicated to the program. The ordering process is managed through Revvity Omics, and the program is available to Canadian clinicians. Ordering carries no obligation regarding prescribing or treatment decisions.
Does Roadmap 2 Rare support familial variant testing after a Pompe disease proband is identified?
Yes. After a clinician identifies a proband patient with Pompe disease, the Roadmap 2 Rare program sponsors familial variant testing for at-risk relatives. This cascade testing can be requested through Revvity Omics at no cost, supporting early identification within affected families.
Does ordering through Roadmap 2 Rare create any prescribing or treatment obligation?
No. The Roadmap 2 Rare Diagnostic Program is explicitly designed not to interfere with clinical independence. Test selection and all treatment decisions remain at the sole discretion of the healthcare professional. Patient and clinician identifying information is not shared with Sanofi Canada.
Which patients are eligible for Roadmap 2 Rare Pompe Disease genetic testing?
Patients may qualify for Roadmap 2 Rare if they meet the program's eligibility criteria:
- 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.
See an issue with this program?