Test Code 9605
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 | Sequencing with CNV PGxome |
Specimen(s) | Blood, Saliva, or Buccal Swab |
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