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Test Code 223
New York approved

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

GAA

N/A

Who is this test for?

Candidates for this test are patients with clinical symptoms, biochemical test results and/or enzyme assay results consistent with GSD Type II, including infants with a positive newborn screen. Testing is also indicated for family members of patients with known GAA variants. We will also sequence the GAA gene to determine carrier status.

Method
Sanger Sequencing
Specimen(s)

Blood, Saliva, or Buccal Swab

Order Options

OTHER OPTIONS
for standard institutional pricing.

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