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Test Code 234

Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene, Exon 18 Deletion

GAA

2 - 3 weeks (8 - 10 days STAT)

Who is this test for?
  • Individuals for whom prior genetic testing was negative or detected a single variant associated with autosomal recessive disease in the relevant gene, and clinical suspicion is high for disease caused by that particular gene
  • Family members of patients who have tested positive for one of these particular deletions/duplications/inversions
Method
Targeted PCR
Specimen(s)

Blood, Buccal, Saliva, Tissue

Order Options

OTHER OPTIONS
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