CBGT - Overview: Galactocerebrosidase, Fibroblasts

Test Catalog

Test ID: CBGT    
Galactocerebrosidase, Fibroblasts

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

Diagnosis of Krabbe disease

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

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

This test is not intended for carrier detection


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 or fibroblasts (CBGT / Galactocerebrosidase, Fibroblasts).


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.

Additional Tests Lists test(s) that are always performed, at an additional charge, with the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
CRYOBCryopreserve for Biochem StudiesNoYes
FIBRFibroblast CultureYesYes

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

CBGT: Radioisotopic

FIBR: Cultivated from Biopsy as Monolayer

CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage

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


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name


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

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