Test ID: GALCW    
Galactocerebrosidase, Leukocytes

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Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of Krabbe disease

 

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

 

This test is not intended for carrier detection.

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test provides diagnostic testing for patients with clinical signs and symptoms suspicious for Krabbe disease.

 

Enzyme testing for galactocerebrosidase is included in the diagnostic workup for infants following a positive newborn screen result for Krabbe disease.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

The following information is available:

-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase

-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase and Psychosine

-Newborn Screen Follow-up for Krabbe Disease: Galactocerebrosidase, Psychosine, and GALC 30kb Deletion

-Newborn Screening Act Sheet Krabbe Disease: Decreased Galactocerebrosidase

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Galactocerebrosidase, WBC

Aliases Lists additional common names for a test, as an aid in searching

Cerebroside B-Galactosidase, WBC
Cerebroside Beta-Galactosidase(WBC)
Galactocerebrosidase
Galactocerebrosidase Deficiency
Galactosylceramidase Deficiency
Galactosylceramide
GALC Deficiency
Globoid Cell Leukodystrophy
Krabbe Disease
Krabbe's Disease