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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 support clinical decision-making and ordering in your practice.

For healthcare providers

Overview

The Lantern Project provides sponsored genetic testing for patients with suspected lysosomal storage diseases (LSDs). LSDs are multisystem disorders caused by impaired lysosomal function and often present with overlapping features. This program supports timely diagnosis by offering testing options for major conditions including Gaucher, Fabry, Pompe, and multiple MPS subtypes.

When to consider this test

Patient selection

  • Healthcare providers evaluating a patient with possible lysosomal storage disease based on clinical presentation, abnormal laboratory findings, or relevant family history.
  • Providers who determine that further genetic evaluation is warranted to confirm or rule out an LSD.
  • Eligible to order any of the test options available through the Lantern Project test requisition based on the patient’s clinical features.

Workflow

How to use this program

  1. 1

    Order Test

    Identify the appropriate Lantern Project test option for the suspected LSD category and submit the completed requisition form and attestation.

  2. 2

    Collect & Ship

    Collect a blood or buccal sample and return it to Revvity using the provided kit and prepaid shipping label. Ensure all paperwork is included.

  3. 3

    Review Results

    Access results when ready (typically within the program’s stated range) and integrate findings into patient counseling, care planning, and consideration of family testing.

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 diseases can be evaluated through this program?

The Lantern Project supports broad molecular testing for dozens of lysosomal storage disorders, grouped into enzyme-deficiency disorders, mucopolysaccharidoses, and neuronal ceroid lipofuscinoses (NCL/Batten disease). Providers select the appropriate panel based on clinical suspicion.

Who is eligible for testing?

Patients with signs, symptoms, biochemical findings, or family history concerning for an LSD are eligible. This includes progressive weakness, organomegaly, developmental delay, coarse features, cardiomyopathy, neurodegeneration, unexplained metabolic findings, or prior suggestive screening results.

How do I order a test?

Use the Lantern Project test requisition form, select the correct LSD panel, complete the attestation, and submit with the patient’s specimen. Kits are available through Revvity.

What specimens are accepted?

Panels may accept blood or buccal swab depending on the test. Each panel includes specific collection instructions.

What is the turnaround time?

Most LSD test panels return results in 2–4 weeks, though some may vary based on complexity.

Is there a cost to my patient or practice?

No. Sanofi fully sponsors testing. Your patient, your practice, and insurance pay nothing.

Is pre-test counseling required?

Basic informed consent is required. Providers should counsel patients on the purpose and scope of genetic testing before ordering.

Is post-test genetic counseling available?

Yes. Revvity’s genetics team provides no-charge post-test counseling and can support interpretation, variant classification questions, and family follow-up planning.

Can results be used to confirm diagnosis or guide referrals?

Yes. Results may support diagnosis, help differentiate phenotypically overlapping LSDs, inform treatment decisions, and guide referrals to metabolic or genetic specialists.

Are results shared with Sanofi?

No. Sanofi receives no identifiable patient information. Testing is performed and managed entirely by Revvity.

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

Getting started

Use the links below to review program details, place orders, print requisitions, or request collection kits.

Performing lab

Revvity Omics, Inc.

Available in: United States

Order test
Print requisition
Order collection kit
Learn more

Additional Resources

Specimen Requirements

Privacy & ordering: This directory doesn't handle PHI. Orders occur on participating labs' systems. Privacy & Compliance

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