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.
This assay will not detect large deletions in the GAA gene or deep intronic variants outside the region sequenced in the GAA gene.
- Glycogen storage disease 2, juvenille onset
- Glycogen storage disease 2, infantile onset
- Glycogen storage disease 2, late onset
- Maltase Deficiency
- Acid Maltase
- Acid Alpha-glucosidase
- Pompe Disease
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….
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.