Sanofi Genzyme and PerkinElmer Expand Access to Free Diagnostic Testing

October 15, 2018

Rare Daily Staff

The Lantern Project, a program Sanofi Genzyme created with PerkinElmer Genomics, is offering no-cost testing for people suspected of having certain lysosomal storage disorders that go largely undiagnosed.

Lysosomal storage disorders are frequently characterized by a range of symptoms that can present at any time from early childhood to late in adulthood. Disease progression and symptom severity can vary widely. Because these diseases are rare and have symptoms associated with more common diseases. Because of that they are often misdiagnosed and can take years to be correctly diagnosed.

The Lantern Project is specifically designed to overcome the barriers that patients experience in accessing comprehensive testing services for these diseases, including additional diagnostic tests that may be needed when results of genetic testing are suggestive but inconclusive.  Through The Lantern Project physicians can arrange for screening of certain suspected lysosomal storage disorders, as well as confirmatory DNA testing and phlebotomy services for their patients.

Physicians who suspect a patient may be suffering from Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidosis type I (MPS I), or acid sphingomyelinase deficiency (also known as Niemann-Pick disease types A and B) can access the program. Additionally, there is an option of an enzyme panel for seven mucopolysaccharidoses and a 105 gene panel for limb-girdle muscular dystrophies and other myopathies.

“The Lantern Project is another reflection of Sanofi Genzyme’s continuing commitment to the rare disease communities we serve,” said Sarah Gonzalez, head of medical diagnostics at Sanofi Genzyme. “While we have seen many significant advances in research over the past 30-plus years, there are still tremendous challenges in helping patients get a diagnosis for many rare diseases.”

More information about the program can be found at

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