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Test Code GALCR Galactocerebrosidase Reflex, Leukocytes

Reporting Name

Galactocerebrosidase Reflex, WBC

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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 Disorders, Six-Enzyme Panel, Leukocytes.

 

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


Specimen Required


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

 

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.


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

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

 

≥0.300 nmol/hr/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.

Day(s) Performed

Preanalytical processing: Monday through Saturday

Testing performed: Monday, Wednesday

Report Available

4 to 10 days

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