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Test Code 9605
New York approved

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

GAA

2 - 3 weeks (7 - 16 days STAT)

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
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
for pricing.

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