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Order 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

Reject Due To

Gross hemolysis Reject

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

Method Description

The specimens are incubated with a mix of substrate and internal standard for galactocerebrosidase 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 GLA is included to verify sample integrity.(Unpublished Mayo method)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.

Testing performed: Monday, Wednesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542