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PerkinElmer Collaborates with Helix to Drive Innovation in Exome-Based Personal Genomics
First Personal Genomics Product Will Focus on 59 Genes Identified by the American College of...
Learn MoreFirst Personal Genomics Product Will Focus on 59 Genes Identified by the American College of...
Learn MorePompe disease, also known as acid maltase deficiency, is a rare, autosomal recessive lysosomal storage disease with a wide range of clinical phenotypes, presenting in infancy, childhood, or adulthood. Pompe disease is caused by an absence or deficiency of the lysosomal enzyme acid α-glucosidase, essential for the degradation of glycogen. Mutations in the GAA gene lead to absence or deficiency of the acid α-glucosidase enzyme resulting in progressive accumulation of lysosomal glycogen that can affect all muscle types.
Pompe disease is classified into Infantile-onset (IOPD) or Late-onset (LOPD)
Incidence
Overall incidence estimates for the United States for all forms: 1 in 40,000* (based off ethnically diverse New York population)
*Incidence varies depending on geography and ethnic background
The Lantern Project* consists of an acid α-glucosidase enzyme assay with reflex to GAA sequencing if deficient, and is for individual patients suspected of having Pompe disease via:
*This testing program is not appropriate for carrier testing as enzyme assay will not reliably detect carriers
Testing algorithm:
*Expedited GAA sequencing with turnaround time of 3 days is available for infants with symptoms of infantile-onset Pompe disease, or those with presumptive positive Pompe disease based on newborn screening.
Acid α-glucosidase Enzyme Assay
GAA Gene Sequencing
Bundled Testing (Enzyme assay with reflex to sequencing)
Click here for detailed sample instructions and required quantities.
Enzyme Assay
Gene Sequencing Assay
Acid alpha-glucosidase Enzyme Assay: 3 days
GAA Gene Sequencing: 3 weeks
First Personal Genomics Product Will Focus on 59 Genes Identified by the American College of...
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