Days Set Up
Monday - Friday
Analytic Time

28 days

MiChart Code
GAA Gene Sequencing
Soft Order Code
GAAS

Test Updated:

Synonyms

Glycogen storage disease 2, infantile onset
Glycogen storage disease 2, late onset

Glycogen storage disease 2, juvenille onset
Acid Maltase
Acid Alpha-glucosidase
Pompe Disease
Alpha-1,4-glucosidase
GSDII
Maltase Deficiency

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Find a Requisition

All specimens should be accompanied by a requisition.

Submitting Specimens

Learn about how to properly label and where to ship specimens.

Order Kits and Supplies

MLabs provides all the supplies necessary for the collection of specimens.

Test FAQ

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Test Overview

Test Methodology

The coding exons and flanking consensus splice sites of the GAA gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.

Test Usage

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).

Reference Range

Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Offsite

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….

Lavender Top Tube
Normal Volume
5 mL EDTA whole blood
Minimum Volume
2 mL EDTA whole blood

Billing Information

CPT Code
81406
Pro Fee Code
81406.16
LOINC
 

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.