Sign in →

Test Code A Glu Pom Alpha Glucosidase

Clinical System Name

Alpha Glucosidase (Pompe); Alpha Glucosidase (Pompe), Fibroblasts



Acid Maltase

Glycogen Storage Disease II (GSD II)


A Glu Pom




Fluorometric enzyme test for alpha-glucosidase for diagnosis of Pompe disease (glycogen storage disease type II).

Sample Requirements

Specimen: Whole Blood

Container(s): Yellow/ACD A or B, Dark Green/Sodium Heparin Tube

Preferred Vol:2.0 mL

Minimum Vol: 2.0 mL


Note: Also acceptable: newborn blood spots (minimum of 3 spots), or cultured cells from skin fibroblasts (2 confluent T-25 flasks)

Do NOT use gel separator tubes.


Processing Instructions

Reject due to:

Spin: N



Storage location: Biochemical Genetics Box- RT

Processing on weekends: Contact Chem West (x72565) on dayshift. If Chemistry team is unavailable, sample should be stored in RT Biochemical Genetics box.


Off-site collection: Do not spin!  Keep at room temperature.  Transport Mon-Thurs at room temperature via overnight shipping.


Specimen Type Temperature Time
Whole Blood Rm Temp

≤24 hrs

Whole Blood Refrigerated <24 hrs
Dried Blood Spot Rm Temp 1 week

Whole blood samples received > 24 hr after blood collection will still be processsed and test performed if possible.


STAT Performed TAT
N Weekly 7-10 days

Contact the Biochemical Genetics Lab for requests outside stated availability (206)987-2216.

Performing Laboratory

Seattle Children's Laboratory    


Department:  Biochemical Genetics

Phone Number: 206-987-2216



Reference Range


Specimen Type Normal Range

Blood Spot

21-85 pmol/hr/spot
FB (fibroblast) 40 - 155 nmol/hr/mg protein



Method: 4 MU fluorometric assay with acarbose inhibition

Analytical Volume:


CPT Codes


Special Instructions

Links to:

Consent Forms



Biochemical Genetics Requisition


On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)

Clinical Utility

Pompe disease (glycogen storage disease type II) is an inherited disorder of glycogen metabolism and a lysosomal storage disease, caused by a deficiency of the enzyme alpha-glucosidase (also called GAA and acid-maltase). Individuals with Pompe disease are unable to use the glycogen stored in the lysosomes for energy, resulting in the progressive storage of glycogen in the heart, liver, and skeletal muscle.

Pompe disease can present in infancy with profound hypotonia, cardiomegaly and cardiomyopathy or later in childhood and adulthood with progressive muscle weakness and respiratory insufficiency.

Late onset Pompe disease presenting in the second to seventh decade of life can appear with muscle weakness in the upper and/or lower extremeties, muscle weakness in the trunk and shortness of breath after exercise.

This test is not appropriate for determining carrier status of for prenatal diagnosis.