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Evaluation of patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting
This test is used to diagnose Pompe disease and is based upon a ratio calculated between the creatine (Cre) and creatinine (Crn) ratio and the activity of acid-alpha glucosidase (GAA).
This test can help differentiate true cases of infantile and late onset Pompe disease from false-positive cases such as carriers and pseudodeficiency of GAA enzyme.
A positive test result supports the utility of follow-up molecular genetic analysis of the GAA gene.
See Newborn Screen Follow-up for Pompe Disease in Special Instructions.
Flow Injection Analysis-Tandem Mass Spectrometry (FIA-MS/MS)