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Test Code GAAWR Acid Alpha-Glucosidase Reflex, Leukocytes


Specimen Required


Only orderable as a reflex. For more information see LSD6W / Lysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes.


Useful For

Diagnosis of Pompe disease as a confirmatory reflex of the 6-enzyme panel

Method Name

Only orderable as a reflex. For more information see LSD6W / Lysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes.

 

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

Reporting Name

Acid Alpha-Glucosidase Reflex, WBC

Specimen Type

Whole Blood ACD

Specimen Stability Information

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

Reference Values

Only orderable as a reflex. For more information see LSD6W / Lysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes.

 

≥1.50 nmol/hour/mg protein

Interpretation

When abnormal results are detected, a detailed interpretation is given, including an overview of the results and of their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing and in vitro, confirmatory studies (enzyme assay, molecular analysis), and a phone number to reach one of the laboratory directors in case the referring physician has additional questions.

Clinical Reference

1. Elliott S, Buroker N, Cournoyer JJ, et al: Pilot study of newborn screening for six lysosomal storage diseases using tandem mass spectrometry. Mol Genet Metab. 2016 Aug;118(4):304-309. doi: 10.1016/j.ymgme.2016.05.015

2. Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S: Newborn screening for lysosomal storage disorders. Semin Perinatol. 2015 Apr;39(3):206-216. doi: 10.1053/j.semperi.2015.03.005

3. Reuser AJ, Hirschhorn R, Kroos MA: Pompe disease: Glycogen storage disease type II, acid a-glucosidase (acid maltase) deficiency. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019. Accessed June 30, 2020. Available at: https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225890450

4. Lin N, Huang J, Violante S, et al: Liquid chromatography-tandem mass spectrometry assay of leukocyte acid alpha-glucosidase for post-newborn screening evaluation of Pompe disease. Clin Chem. 2017 Apr;63(4):842-851. doi: 10.1373/clinchem.2016.259036

5. Leslie N, Bailey L: Pompe disease. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2007. Updated May 11, 2017. Accessed March 23, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1261/

Day(s) Performed

Preanalytical processing: Monday through Saturday.

Assay performed: Monday, Wednesday

Report Available

5 TO 9 days

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. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

82542