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Test ID: CBGT    
Galactocerebrosidase, Fibroblasts

Secondary ID A test code used for billing and in test definitions created prior to November 2011

8297

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

Yes

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

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

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

Galactocerebrosidase,Fibro

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
Galactocerebrosidase Deficiency
Galactosylceramidase Deficiency
Galactosylceramide
GALC Deficiency
Globoid Cell Leukodystrophy
Krabbe Disease
Krabbe's Disease