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Test Code CBGC Galactocerebrosidase, Leukocytes


Shipping Instructions


For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerate within 72 hours of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected 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: Send specimen in original tube. Do not transfer blood to other containers.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

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.

Useful For

Diagnosis of Krabbe disease

 

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

 

This test is not useful for carrier detection because of the wide range of enzymatic activities observed in carriers and non-carriers.

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

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

Gross hemolysis

Reject

Reference Values

≥1.20 nmol/h/mg protein

Day(s) and Time(s) Performed

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

Analytic Time

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. 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