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
Gaucher disease is a rare inherited condition that can affect the liver, spleen, bones, and blood. If your doctor suspects Gaucher disease, the Roadmap2Rare program can help you get the diagnostic testing you need at no cost to you. Sanofi covers the full cost of testing, which is performed by Revvity Omics, so you will never receive a bill. Your healthcare provider orders the test and guides all decisions about which testing is right for your situation.
Who this may help
Could this be right for you or your family?
- To qualify, all of the following must be met:
- This program is for diagnostic testing only — it is not for carrier testing
- The test is ordered by a doctor (a licensed provider allowed to order genetic testing)
- At least one of the following is true:
- A doctor suspects the patient may have Gaucher disease
- Gaucher disease runs in the family and the specific family variant is already known
- A doctor suspects the patient may have acid sphingomyelinase deficiency (ASMD / Niemann-Pick type A/B)
- ASMD runs in the family and the specific family variant is already known
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 the Roadmap2Rare program for Gaucher disease?
Roadmap2Rare is a sponsored diagnostic testing program that helps people who may have Gaucher disease get the answers they need. The program offers genetic and biochemical testing performed by Revvity Omics, and your healthcare provider can order testing on your behalf. Roadmap2Rare also supports family screening, so relatives of someone diagnosed with Gaucher disease may be able to get tested too.
Is Gaucher disease testing through Roadmap2Rare really free, and who pays for it?
Yes, testing through the Roadmap2Rare program is completely free to you. Sanofi sponsors the program and covers the full cost of diagnostic testing, so there is no charge, no copay, and no bill sent to you or your family. The test is performed by Revvity Omics at no cost to you or your clinician.
How do I get tested for Gaucher disease through Roadmap2Rare?
Your healthcare provider is the one who orders the test through the Roadmap2Rare program. If you think you might benefit from Gaucher disease testing, talk to your doctor about whether this program is right for you. Your clinician will decide which specific test is most appropriate based on your symptoms and medical history.
Can family members also get free Gaucher disease testing through Roadmap2Rare?
Yes, the Roadmap2Rare program supports family tree screening and familial variant testing. Once a family member has been identified with Gaucher disease, your doctor can request testing for other relatives through the program at no cost. This can help identify family members who may also carry or be affected by the condition.
Is genetic counseling available with Gaucher disease testing through Roadmap2Rare?
Your healthcare provider can help you understand what your test results mean and discuss next steps, including whether genetic counseling would be helpful. If you have questions about what Gaucher disease testing involves or what the results might show, your doctor is the best person to guide you through the process.
Who qualifies for Roadmap2Rare Gaucher Disease genetic testing?
Patients may qualify for Roadmap2Rare if they meet the program's eligibility criteria:
- 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.
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
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