Lysosomal Disorders Testing Pathway
Disease-specific molecular and enzymatic assays for suspected lysosomal storage disorders. Includes tests for Gaucher, Fabry, Pompe, MPS, Krabbe, and related LSDs.
Accessed through the The Lantern Project 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
When symptoms are hard to explain and a lysosomal storage disease is suspected, getting the right test can make all the difference. The Lantern Project, sponsored by Sanofi, gives you access to genetic testing at no cost to you, covering a broad range of lysosomal storage diseases including Gaucher disease, Fabry disease, Pompe disease, MPS subtypes, and related conditions. Instead of waiting years for answers, this program can help shorten the journey to a diagnosis so you and your doctor can focus on the best path forward.
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 diagnosing a disease — not for carrier testing
- A healthcare provider is ordering the test because they suspect a lysosomal storage disease and believe the result could affect care
- At least one of these reasons applies:
- The provider suspects one of these conditions based on symptoms: ASMD (Niemann-Pick A/B), Gaucher disease, Fabry disease, MPS I, another MPS condition, or Pompe disease
- A newborn screen suggested one of these conditions and the provider wants to confirm it
- A low enzyme result from another lab needs genetic confirmation (bring those earlier results)
- A close family member has one of these conditions, or a known genetic change in the family
- The provider suspects a related muscle, lung, or pain/stroke condition covered by one of the focused panels
What to expect
How the process works
- 1
Order Test
Work with your provider to determine which Lantern Project test is appropriate for your symptoms or family history. Your provider will submit the order using Revvity’s test requisition form.
- 2
Provide a Sample
Give a blood or buccal specimen as directed. Your provider will ship the sample to Revvity using the materials and prepaid label included in the kit.
- 3
Receive Results
Your provider will review your results when available and discuss next steps, including diagnosis, management, or family testing as appropriate.
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 Lantern Project for lysosomal storage diseases?
The Lantern Project is a sponsored genetic testing program that helps people who may have a lysosomal storage disease get a diagnosis. It covers testing for a wide range of conditions, including Gaucher disease, Fabry disease, Pompe disease, several MPS subtypes, and other related disorders. The program is available in the United States and is designed to help shorten what can otherwise be a long and difficult path to finding answers.
Is The Lantern Project really free for patients with suspected lysosomal storage diseases?
Yes, The Lantern Project is completely free to you. Sanofi, the program's sponsor, covers the full cost of testing. There is no charge, no copay, and no deductible for patients. You will not receive a bill for the genetic testing provided through this program.
What lysosomal storage diseases does The Lantern Project test for?
The Lantern Project covers a broad range of lysosomal storage diseases in a single testing program. This includes Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidosis type I (MPS I), acid sphingomyelinase deficiency (also known as Niemann-Pick disease types A and B), and an enzyme panel for multiple MPS subtypes. Your doctor can help determine which testing option is most appropriate for your symptoms.
How do I get tested through The Lantern Project for a lysosomal storage disease?
Testing through The Lantern Project is ordered by your doctor. If your physician suspects you may have a lysosomal storage disease, they can arrange testing through the program, which includes screening and confirmatory DNA testing. Talk to your doctor about whether The Lantern Project may be a good option for you.
Is genetic counseling available through The Lantern Project?
Genetic testing for lysosomal storage diseases can raise important questions about what your results mean for you and your family. If you have questions about your results or what they may mean, talk to your doctor about connecting with a genetic counselor who can help guide you through the process.
Who qualifies for The Lantern Project lysosomal storage diseases genetic testing?
Patients may qualify for The Lantern Project if they meet the program's eligibility criteria:
- Resides in the United States.
- Clinical suspicion for a lysosomal storage disorder based on symptoms, lab abnormalities, or specialist concern.
- May present with progressive neurologic symptoms, unexplained organ enlargement, skeletal abnormalities, metabolic crises, cardiac involvement, or other findings consistent with LSDs.
- OR has a family history of a known or suspected LSD.
- Note: No prior genetic testing is required. Patients may qualify regardless of age or specific LSD subtype.
Questions to ask your doctor about Lysosomal Disorders Testing Pathway
- 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?