Sanofi Genzyme 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:

Please click on the appropriate disease above to learn more about the specific disorder, the supporting test and how to order it. 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 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 under recognized. Due to the overall rarity of these conditions and their clinical heterogeneity, lengthy diagnostic delays and missed diagnoses are common.

Ordering Instructions

References

  1. Wilcox WR. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. J Pediatr 2004;144:S3e14
  2. Kishnani PS, Amartino HM, Lindberg C, et al. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Hum Genet 2013;161:2431e43

 

Testing is sponsored by Sanofi Genzyme, who does not receive any identifiable information about patients or ordering providers.

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