Sanofi is partnering with PerkinElmer Genomics to offer a complimentary genetic testing program called The Lantern Project. This program will provide diagnostic testing for the following disorders (click on the disorder to learn more about the disease, the supporting test, and how to order it):

For patients seeking more information, please click here for a list of frequently asked questions.

The Lantern Project is not intended to and should not interfere in any way with a health care professional’s or patient’s independent judgment and freedom of choice in the treatment options for these diseases. Health care professionals and patients should always consider the full range of treatment options and select those most appropriate for the individual patient.

For Health Care Professionals already familiar with the above-listed disorders, feel free to use the links below to order a kit or submit a sample.

About Lysosomal Storage Disorders

The lysosomes are required for the breakdown of intracellular molecules and compounds of all sizes. The lysosomal interior is an acidic environment, and contains a number of different enzymes. Defects in these lysosomal enzymes result in an accumulation of the substrate in the lysosome eventually disrupting tissue function leading to enlarged and impaired organs. The affected cell systems will vary with the disorder, but all disorders involve multiple organ systems.

Suspicion of a lysosomal storage disorder can come from the physical exam (e.g. organomegaly, skeletal abnormalities, corneal clouding, or coarse features) and developmental assessment. Developmental delay with regression and/or organ dysfunction that is progressive is a hallmark of a storage disorder. Progressive cardiac, renal, hematological, or nervous system dysfunction occurring in a younger population than is typical would also prompt consideration of these disorders (e.g. renal disease, arrhythmias, valve disease, stroke, and peripheral neuropathy).

There is usually a continuum of severity and LSDs without obvious dysmorphic features or developmental delay are underrecognized. Due to the overall rarity of these conditions and their clinical heterogeneity, lengthy diagnostic delays and missed diagnoses are common.

New York State

New York State Public Health Law and Regulations require samples that are collected from patients within New York State be tested by a clinical laboratory that holds proper New York licensing. Due to the rarity of many genetic conditions, laboratories may not hold proper licensing for all testing options available. However, there can be justification for requesting laboratory testing from a facility that does not hold the specific disease testing permits.

NY State Approval Status – Lantern Project

Test Code Test Name NYS Approved?
SAN006 Alpha-Galactosidase A Enzyme (Fabry) Yes
SAN007 GLA Gene Sequencing Yes
SAN008 Glucocerebrosidase Enzyme (Gaucher) Yes
SAN009 GBA Gene Sequencing Yes
SAN001 Sanofi MPS Enzyme Panel (MPS I, MPS II, MPS IIIB, MPS IVA, MPS IVB, MPS VI, MPS VII) Yes
SAN010 Alpha-L-Iduronidase Enzyme (Hurler) Yes
SAN011 IDUA Gene Sequencing Yes
SAN012 Acid Sphingomyelinase Enzyme (Niemann Pick) Yes
SAN013 SMPD1 Gene Sequencing Yes
SAN014 Acid Alpha-Glucosidase Enzyme (Pompe) Yes
SAN015 GAA Gene Sequencing Yes
SAN003 GAA Expedited Gene Sequencing Yes
SAN004 Gaucher Lyso-GL1 (GB1) Yes
SAN005 Fabry Lyso-GL3 (GB3) Yes
SAN200 Focused Neuromuscular Disease Panel Yes

Mobile Phlebotomy & FAQs

  • Sample collection via mobile phlebotomy is offered when on site collection is difficult for a patient. This service is provided by ExamOne, a third party service provider, and available for patients who:
    • Have a medical condition, recent hospitalization, or recent surgery which restricts travel, or are otherwise immobile and unable to attend appointments outside the home.
    • Lack access to transportation
    • Do not live close to any draw sites
  • For more information, see below for a list of FAQs. Please call PerkinElmer client services at 1-866-354-2910 for any additional questions or concerns.

  • Once your order is received, ExamOne will contact the patient to coordinate the appointment and ship necessary materials for sample collection.

  • To take advantage of this service for your patient, providers should complete the Mobile Phlebotomy Sample Collection Request section on the requisition form along with all other sections of the requisition form and send to PerkinElmer Genomics Client Services at Genomics@perkinelmer.com.

There are two sample options that are available through mobile phlebotomy sample collection, whole blood and Dried Blood Spot (DBS). At time of service request by the provider, the provider will also need to request either a whole blood pack or DBS sample pack.

DBS sample collection and venipuncture collection using a whole blood back is available to patients 13 years and older.

Providers in New York can follow the standard process for submitting an order. Click here for more information. Please be sure to send all New York specific paperwork along with the requisition to ExamOne as it’s required by the lab for sample processing.

No, mobile sample collection is included with the sponsored testing at no cost to the patient.

  • Appointments can be scheduled to Monday-Friday 7AM-1PM EST.
  • Phlebotomists are available throughout the US, but some rural areas may need additional time for scheduling.

ExamOne will make 3 attempts to reach the patient. If they are unable to get in touch with the patient to schedule an appointment, ExamOne will contact the provider requesting the service to discuss further steps.

The patient will be asked to provide identification to the examiner.

Yes, once an appointment is scheduled, ExamOne will provide a scheduling coordinator’s number to use for any scheduling needs before the appointment. If any issues arise during the appointment that ExamOne is unable to immediately resolve, ExamOne will notify PerkinElmer Genomics of the unsuccessful collection and determine how to move forward. The appointment can be re-scheduled if necessary.

Test Resources

Request a kit
Test Requisition Form
Order

How to Order

1. Place your Order

LEARN MORE

2. Collect a Specimen

LEARN MORE

3. Get Results

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Contact PerkinElmer Genomics for more information

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