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Unit Code 8297:
Galactosylceramide Beta-Galactosidase, Fibroblasts

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Useful For

The detection of patients with Krabbe's disease

 

This test may also be useful to detect depressed but not absent

activity in carriers of Krabbe's Disease.

Testing Algorithm

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

• Lysosomal Storage Disorders 

Method Name

8297: Radioisotopic
8482: Cultivated from Biopsy as Monolayer
88832: Fibroblast Subculture Followed by Cryopreservation 
and Storage 

Reporting Name

Galactosylcer B-Galactosidase,Fibro

Ordering Mnemonic

CBGT

Aliases

B-Galactosidase Galactosylceramide, Fibroblast

Beta-Galactosidase Galactosylceramide, Fibroblast

Cerebroside B-Galactosidase

Cerebroside Beta-Galactosidase

Galactocerebrosidase

Galactocerebrosidase Deficiency

Galactosylceramidase Deficiency

GALC Deficiency

Globoid Cell Leukodystrophy

Krabbe Disease

Krabbe's Disease

Key