Gaucher Disease and ASMD (Niemann-Pick A/B)
Parallel enzyme assay for Gaucher and ASMD measuring GCase and ASM activity, with reflex to GBA or SMPD1 sequencing as indicated; lyso-GL1 added when GCase is low.
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 Gaucher disease or ASMD based on signs/symptoms, or presumptive positive NBS for either disorder.
- Order parallel GCase and ASM enzyme assays with reflex sequencing of GBA or SMPD1, as indicated by the deficient enzyme.
- Not intended for carrier screening; use separate workflows for carrier 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 order?
For clinical features suggestive of Gaucher disease or ASMD, or presumptive positive NBS for either disorder.
What is the testing algorithm?
Parallel GCase and ASM enzyme activity; reflex sequencing of GBA or SMPD1 is performed based on the deficient enzyme. Consider lyso-GL1 to support Gaucher assessment.
Why parallel enzymes?
It distinguishes Gaucher (GCase deficiency) from ASMD (ASM deficiency) efficiently within one pathway.
How should I use lyso-GL1?
Use it as an adjunct when Gaucher is suspected to aid interpretation and follow-up.
What about females or atypical presentations?
Molecular confirmation (GBA or SMPD1) is important when enzyme results or phenotype are equivocal.
Typical turnaround times?
TAT varies by assay and local program guidance; set expectations with families accordingly.
Is this appropriate for carrier screening?
No. Use separate carrier workflows if that is the clinical question.
How are results reported?
Reports are issued to the ordering provider with enzyme activities and, if performed, molecular findings and interpretation.
Any scope limitations to note?
This pathway does not evaluate Niemann-Pick type C and is not designed to resolve all complex structural variants; integrate results with phenotype and family history.
See an issue with this program?