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 provides no-cost diagnostic testing for patients with suspected Gaucher disease, sponsored by Sanofi and performed by Revvity Omics. Beyond initial diagnostic workup, the program also sponsors CYP2D6 metabolizer status determination for adult patients with Gaucher disease type 1, supporting treatment decisions where metabolizer phenotype may affect dosing or therapeutic selection. Familial variant testing is available once a proband has been identified. Test selection and all treatment decisions remain entirely at the clinician's discretion, and patient-identifying information is not shared with Sanofi.
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 Gaucher disease
- Family history of Gaucher Disease, familial variant known
- Clinical suspicion of Acid Sphingomyelinase Deficiency
- Family history of Acid Sphingomyelinase Deficiency, familial variant known
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 Gaucher disease testing through Roadmap2Rare?
The Roadmap2Rare program is designed for patients with clinical suspicion of Gaucher disease who meet the program's criteria. The program covers diagnostic genetic and biochemical testing as well as familial variant testing for relatives of an identified proband. Clinicians determine which specific tests are appropriate for each patient.
What testing does Roadmap2Rare offer for Gaucher disease, including CYP2D6 genotyping?
Roadmap2Rare covers diagnostic genetic and biochemical testing for Gaucher disease, performed by Revvity Omics. The program also sponsors CYP2D6 metabolizer status determination for adult patients with Gaucher disease type 1, where metabolizer phenotype may influence dosing and appropriateness of certain treatments. Familial variant testing is available after proband identification.
Is there any cost or prescribing obligation when ordering Gaucher disease testing through Roadmap2Rare?
There is no cost to the clinician or the patient for testing ordered through Roadmap2Rare. Sanofi sponsors the program in its entirety, and Revvity Omics performs the testing at no charge. Ordering through the program carries no prescribing or purchasing obligation, and all treatment decisions remain at the clinician's discretion. Patient and clinician identifying information is not shared with Sanofi.
How do I order Gaucher disease diagnostic testing through the Roadmap2Rare program?
Clinicians can access Roadmap2Rare testing through the Revvity Omics portal. The program supports diagnostic testing, familial variant screening, and CYP2D6 genotyping requests. For CYP2D6 metabolizer status testing in adult Gaucher type 1 patients, clinicians can contact the program directly for additional information and to initiate requests.
Does Roadmap2Rare support family screening after a Gaucher disease proband is identified?
Yes, Roadmap2Rare sponsors familial variant testing once a proband with Gaucher disease has been identified by the ordering clinician. This testing is performed by Revvity Omics at no cost, sponsored by Sanofi. The clinician initiates the familial testing request through the Revvity Omics site.
Which patients are eligible for Roadmap2Rare Gaucher Disease genetic testing?
Patients may qualify for Roadmap2Rare if they meet the program's eligibility criteria:
- 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.
See an issue with this program?