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Metabolic / GeneticsMucopolysaccharidoses+Neurodegenerative+Storage+

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

The Lantern Project offers no-charge genetic testing for people suspected of having a lysosomal storage disease (LSD). These inherited conditions involve enzyme or transporter defects that can impact multiple organs. The program helps shorten the path to diagnosis by giving patients access to testing for major LSDs such as Gaucher, Pompe, Fabry, MPS subtypes, and related disorders.

Who this may help

Could this be right for you or your family?

  • 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.

What to expect

How the process works

  1. 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. 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. 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 conditions does this program support?

The Lantern Project offers no-charge genetic testing for a wide range of lysosomal storage diseases (LSDs), including Pompe disease, Gaucher disease, Fabry disease, MPS disorders, Batten disease (NCL), and related rare metabolic conditions.

Who is eligible for testing?

Testing is intended for individuals with clinical signs, symptoms, or a family history suggestive of an LSD. A healthcare provider must determine clinical suspicion and authorize testing.

How is the test performed?

Your clinician selects the appropriate LSD genetic test panel and orders a sample collection kit. Testing uses a blood or buccal (cheek swab) specimen, depending on the selected panel.

Does this program cost anything?

No. Sanofi sponsors the program and covers the full cost of genetic testing. Neither patients nor insurance are billed.

How long does it take to receive results?

Test results are typically available in 2–4 weeks, depending on the panel and specimen type.

Do I need a doctor to order the test?

Yes. A healthcare provider must review your symptoms, select the appropriate LSD panel, and submit the order.

Will genetic counseling be available?

Yes. Revvity provides access to post-test genetic counseling to help you understand your results and next steps. Ask your provider to coordinate a session.

What happens if a variant or mutation is identified?

A genetics professional can help you interpret the findings, discuss implications for your health, and guide family testing if appropriate.

Is my privacy protected?

Yes. The Lantern Project follows all HIPAA and privacy regulations. Your personal information and results are not shared with Sanofi.

Test details

  • Conditions
    Mucopolysaccharidoses, Neurodegenerative, Storage
  • Test typeTargeted NGS Panel
  • Genes / markers
    17
  • Key genes / markersGBA, GALC, IDUA, IDS, GLA, SMPD1, LIPA, ASAH1, ARSA, CTSD, NAGLU, SGSH, GM2A, HEXA, HEXB, CLN3, PPT1
  • SpecimenDried blood spot (DBS)•Buccal swab
  • Turnaround time7-21 Days
  • LabRevvity Omics, Inc.
  • Program regionUnited States

Next steps

Share this information with your metabolic specialist or genetic specialist. They can help determine whether this test and program are appropriate for you.

Or ask your doctor to search for this test by name at Revvity Omics, Inc..

Questions to ask your doctor about Lysosomal Disorders Testing Pathway

  1. Do you think this test is appropriate for me based on my symptoms and history?
  2. How could the results of this test change my diagnosis or treatment plan?
  3. What are the potential limitations of this test that I should understand?
  4. Should any of my family members also be tested based on my results?
  5. How will we follow up after the results are available?

Notes

See an issue with this program?

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