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Test Code 9605
New York approved

Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene

GAA

N/A

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Pompe disease 
  • Individuals with positive newborn screening results for Pompe disease 
  • Individuals with reduced acid alpha-glucosidase enzyme activity 
  • Reproductive partners of individuals with a known pathogenic or likely pathogenic variant in the GAA gene
Method
Sequencing with CNV PGxome
Specimen(s)

Blood, Saliva, or Buccal Swab

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