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Test Code GALCR Galactocerebrosidase 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 Krabbe disease as a confirmatory reflex of the six-enzyme panel

 

Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease

 

This test is not recommended for carrier detection because of the wide range of enzymatic activities observed in carriers and noncarriers.

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

Galactocerebrosidase 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.

 

≥0.300 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), name and phone number of key contacts who may provide these studies, 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

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

3. Orsini JJ, Escolar ML, Wasserstein MP, et al: Krabbe disease. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2000. Updated October 11, 2018. Accessed April 5, 2022. Available at www.ncbi.nlm.nih.gov/books/NBK1238/

4. Liao HC, Spacil Z, Ghomashchi F, et al: Lymphocyte galactocerebrosidase activity by LC-MS/MS for post-newborn screening evaluation of Krabbe disease. Clin Chem. 2017 Aug;63(8):1363-1369

5. 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

Day(s) Performed

Preanalytical processing: Monday through Saturday.

Testing 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