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Test Code CBGC Galactocerebrosidase, Leukocytes

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

Diagnosis of Krabbe disease

Testing Algorithm

See Newborn Screen Follow-up for Infantile Krabbe Disease in Special Instructions.

 

For more information, see Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase in Special Instructions.

Method Name

Radioisotopic

Reporting Name

Galactocerebrosidase, WBC

Specimen Type

Whole Blood ACD


Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerate within 72 hours of draw to be stabilized. Draw specimen Monday through Thursday only and not the day before a holiday. Specimen should be drawn 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)

Specimen Volume: 6 mL

Collection Instructions: Do not transfer blood to other containers.


Specimen Minimum Volume

5 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood ACD Refrigerated (preferred) 72 hours
  Ambient  72 hours

Reject Due To

Hemolysis

Mild OK; Gross reject

Lipemia

NA

Icterus

NA

Other

NA

Reference Values

≥1.20 nmol/h/mg protein

Interpretation

Values below the reference range are consistent with a diagnosis of Krabbe disease.

Day(s) and Time(s) Performed

Specimens are processed Monday through Sunday. Assay is performed: Varies

Analytic Time

9 days

Specimen Retention Time

WBC homogenate stored 1 month

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82658

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CBGC Galactocerebrosidase, WBC 24084-6

 

Result ID Test Result Name Result LOINC Value
35584 Galactocerebrosidase, WBC 24084-6
35585 Interpretation (CBGC) 59462-2
35586 Reviewed By 18771-6

Forms

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

2. Biochemical Genetics Patient Information (T602) in Special Instructions

3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.