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Test ID CBGC Galactocerebrosidase, Leukocytes

Useful For

Diagnosis of Krabbe disease

Genetics Test Information

Diagnostic testing for patients with clinical signs and symptoms suspicious for Krabbe disease.

 

Included in the diagnostic workup for infants following a positive newborn screen result for Krabbe disease.

This test is not intended for carrier detection.

Highlights

Krabbe disease (globoid cell leukodystrophy) is typically a neurodegenerative disease of infancy, but later onset cases have also been diagnosed.

 

Krabbe disease is caused by reduced or absent galactocerebrosidase in leukocytes

 

A Krabbe disease phenotype can also be caused by the absence of a physiologically active sphingolipid activator protein, saposin A (SAP-A).

 

This test is not recommended for carrier screening.

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

Reference Values

≥1.20 nmol/h/mg protein

Day(s) and Time(s) Performed

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

Performing Laboratory

Mayo Medical Laboratories in Rochester

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 No LOINC Needed

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.

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

Testing Algorithm

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