Glycogen storage disease 2, infantile onset
Glycogen storage disease 2, late onset
Glycogen storage disease 2, juvenille onset
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The coding exons and flanking consensus splice sites of the GAA gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
Analysis for the presence of sequence variants in the GAA gene (OMIM: 606800) in patients with a phenotype consistent with Glycogen storage disease II (GSDII, also known as Pompe disease, OMIM:232300).
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….