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 help patients understand the purpose of testing and what to expect.
For patients
What this test and program do
Roadmap2Rare is a complimentary testing program in Canada that helps evaluate rare diseases using genetic and biochemical tests. It’s offered by Revvity Omics in collaboration with Sanofi Canada and is available through your healthcare provider. Your clinician will decide which test is appropriate for you.
Who this may help
Could this be right for you or your family?
- You have symptoms that suggest Gaucher disease or ASMD (Niemann-Pick A/B).
- You received a presumptive positive newborn screen for either condition.
- Not for carrier testing.
- How it works: both GCase and ASM enzyme activities are measured; if low, DNA testing of GBA or SMPD1 may follow.
What to expect
How the process works
- 1
Choose & order
Your clinician decides if this test fits your situation and submits the order.
- 2
Collect & ship
Provide the sample using the kit and instructions; the clinic or lab ships it to Revvity.
- 3
Get results
Results go to your clinician, who explains what they mean and next steps.
Cost & coverage
Understanding potential costs
If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.
Quality & privacy
How your sample and information are handled
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
Common questions about this program
What is this program for?
It helps check for Gaucher disease and ASMD (Niemann-Pick A/B) by measuring two enzymes and, if needed, doing DNA testing.
Who is it for?
People with symptoms that suggest either condition or newborns flagged on screening tests.
How does the testing work?
Both glucocerebrosidase (GCase) and acid sphingomyelinase (ASM) enzyme levels are measured; if one is low, DNA testing of the related gene (GBA or SMPD1) may be done.
What is lyso-GL1?
It’s a blood biomarker sometimes added when Gaucher disease is suspected to support interpretation.
How long do results take?
Timing varies by test type; your clinician will let you know what to expect.
Does this test tell me if I’m just a carrier?
No. This pathway is for evaluating suspected disease, not for carrier testing.
What does it cost?
Testing in this program is complimentary in Canada for eligible patients.
Who explains the results?
Your clinician receives the report and will review what it means and next steps.
Does this test look for Niemann-Pick type C?
No. Niemann-Pick C is a different condition and requires different tests.
Questions to ask your doctor about Gaucher Disease and ASMD (Niemann-Pick A/B)
- Do you think this test is appropriate for me based on my symptoms and history?
- How could the results of this test change my diagnosis or treatment plan?
- What are the potential limitations of this test that I should understand?
- Should any of my family members also be tested based on my results?
- How will we follow up after the results are available?
Notes
See an issue with this program?