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Order Code GAAW Acid Alpha-Glucosidase, Leukocytes


Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerate within 6 days 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 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

2 mL

Specimen Stability Information

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

Reject Due To

Gross hemolysis Reject

Reference Values

≥1.50 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 GLA is included to verify sample integrity.(Unpublished Mayo method)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 Saturday.

Assay performed: Monday, Wednesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657