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Test ID GAAW Acid Alpha-Glucosidase, Leukocytes


Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerate within 96 hours of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.



Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send specimen in original tube. Do not transfer blood to other containers.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602) in Special Instructions

Useful For

Diagnosis of Pompe disease

 

This test is not intended for carrier detection because of the wide range of enzymatic activities observed in carriers and non-carriers.

Genetics Test Information

This test provides diagnostic testing for individuals with decreased alpha-glucosidase activity on newborn screen or clinical signs and symptoms suspicious for Pompe disease.

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

Acid Alpha-Glucosidase, Leukocytes

Specimen Type

Whole Blood ACD

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 4 days
  Ambient  72 hours

Reference Values

≥1.50 nmol/hour/mg protein

An interpretive report is provided.

Day(s) and Time(s) Performed

Specimens are processed Monday through Sunday.

Assay is performed: Varies

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
GAAW Acid Alpha-Glucosidase, Leukocytes 24051-5

 

Result ID Test Result Name Result LOINC Value
606267 Acid Alpha-Glucosidase, Leukocytes 24051-5
606268 Interpretation 59462-2
606269 Reviewed By 18771-6

NY State Approved

Yes