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 offers a single sponsored testing program that spans the breadth of commonly suspected lysosomal storage diseases, eliminating cost as a barrier to timely molecular diagnosis. Sponsored by Sanofi and performed by Revvity Omics, Inc., the program provides both enzymatic screening and confirmatory DNA testing for conditions including Gaucher, Fabry, Pompe, MPS I, ASMD (Niemann-Pick A/B), a seven-condition MPS enzyme panel, and a 105-gene panel for limb-girdle muscular dystrophies and other myopathies. Ordering carries no prescribing or purchase obligation.
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, who confirms informed consent, medical necessity, and that results may impact medical management
- At least one of the following program indications applies:
- Acid Sphingomyelinase Deficiency (ASMD, Niemann-Pick Type A and B)
- Clinical suspicion of acid sphingomyelinase disease
- Follow-up of presumptive positive newborn screen
- Molecular confirmation following low ASM enzyme activity (provide outside enzyme results)
- Family history of acid sphingomyelinase disease
- Gaucher Disease
- Clinical suspicion of Gaucher disease or ASMD
- Follow-up of presumptive positive newborn screen
- Molecular confirmation following low glucocerebrosidase enzyme activity (provide outside enzyme results)
- Family history of Gaucher disease
- Fabry Disease
- Clinical suspicion of Fabry disease (males: enzyme-first; females: sequencing-first)
- Follow-up of presumptive positive newborn screen
- Family history of Fabry disease
- Mucopolysaccharidosis Type I (Hurler, Hurler/Scheie, Scheie syndromes)
- Clinical suspicion of MPS I
- Follow-up of presumptive positive newborn screen
- Molecular confirmation following low alpha-iduronidase enzyme activity (provide outside enzyme results)
- Family history of MPS I
- Mucopolysaccharidosis — unspecified: clinical suspicion of an MPS condition
- Pompe Disease
- Clinical suspicion of Pompe disease
- Suspected infantile-onset disease
- Follow-up of presumptive positive newborn screen
- Molecular confirmation following low acid alpha-glucosidase enzyme activity (provide outside enzyme results)
- CRIM testing (standalone) for infantile-onset disease when diagnostic testing is done and status is not discernible by genotype
- Family history of Pompe disease
- Focused Neuromuscular Disease Panel: clinical suspicion of a limb-girdle muscular dystrophy
- Focused Pulmonary Disorders Panel: clinical diagnosis or radiographic evidence of idiopathic interstitial lung disease (including idiopathic/progressive/familial pulmonary fibrosis)
- Focused Pain and Cerebrovascular Disease Panel: pain/neuropathy, and/or autonomic dysfunction, and/or stroke
Workflow
How to use this program
- 1
Order Test
Identify the appropriate Lantern Project test option for the suspected LSD category and submit the completed requisition form and attestation.
- 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
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 lysosomal storage diseases are covered by The Lantern Project panel?
The Lantern Project covers Gaucher disease, Fabry disease, Pompe disease, MPS I, and acid sphingomyelinase deficiency (Niemann-Pick A/B). Additionally, the program offers an enzyme panel for seven mucopolysaccharidoses and a 105-gene panel for limb-girdle muscular dystrophies and related myopathies. Both enzymatic screening and confirmatory DNA testing are available through the program.
Is there any cost or purchase obligation when ordering through The Lantern Project for lysosomal storage diseases?
There is no cost to the patient and no prescribing or purchase obligation for the ordering clinician. Sanofi sponsors The Lantern Project in full, covering all testing costs. Physicians can order testing based solely on clinical suspicion of a lysosomal storage disease without any financial considerations for the patient.
Which laboratory performs The Lantern Project genetic testing for lysosomal storage diseases?
The Lantern Project testing is performed by Revvity Omics, Inc. The program includes both enzymatic screening and confirmatory DNA sequencing, providing a comprehensive diagnostic workflow through a single laboratory partner. The program also includes phlebotomy services for patients.
Which patients are appropriate candidates for The Lantern Project lysosomal storage disease testing?
The Lantern Project is designed for patients in the United States in whom a lysosomal storage disease is clinically suspected. Given the multisystem and overlapping presentations of LSDs, the program's broad panel approach allows clinicians to evaluate across multiple conditions simultaneously, which can be particularly valuable in patients with nonspecific or overlapping phenotypes. If patients meet the program's criteria, testing can be arranged at no cost.
Does The Lantern Project offer genetic counseling support for lysosomal storage disease results?
Clinicians ordering through The Lantern Project should ensure that patients have access to appropriate genetic counseling as part of the diagnostic workflow. Results from the program's enzymatic and molecular testing may have implications for the patient and at-risk family members, and counseling can support informed decision-making around findings.
Which patients are eligible for The Lantern Project lysosomal storage diseases genetic testing?
Patients may qualify for The Lantern Project if they meet the program's eligibility criteria:
- 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.
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