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Order Code GAAW Acid Alpha-Glucosidase, Leukocytes


Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Pre-analytical processing is performed Monday through Friday and Sunday. This test may be canceled if specimens are outside of stability when processing occurs. Collect and package specimens for arrival on days when processing is performed.



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 whole blood specimen in original tube. Do not aliquot.


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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Useful For

Diagnosis of Pompe disease

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.

Testing Algorithm

For testing algorithm information see Newborn Screen Follow-up for Pompe Disease.

 

For Newborn Screening ACT Sheet for Pompe Disease (Glycogen Storage Disease Type II) information, visit www.acmg.net/PDFLibrary/Pompe.pdf.

Method Name

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

Reporting Name

Acid Alpha-Glucosidase, Leukocytes

Specimen Type

Whole Blood ACD

Specimen Minimum Volume

4 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  6 days

Reject Due To

Gross hemolysis Reject

Reference Values

≥1.500 nmol/hour/mg protein

An interpretive report is provided.

Method Description

The specimens are incubated with a mix of substrate and internal standard for acid alpha-glucosidase and alpha-galactosidase (GLA). The reaction is then stopped using acetonitrile, centrifuged, and a portion of the supernatant is prepared for analysis by liquid chromatography-tandem mass spectrometry. GLA is included to verify sample integrity.(Unpublished Mayo method)

Day(s) Performed

Preanalytical processing: Monday through Friday, Sunday

Assay performed: Monday, Wednesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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