Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Deletion, GALC

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Deletion, GALC

Definition : Molecular assay reagents intended to identify deletions in the galactosylceramidase (GALC) gene, located in 14q31, which encodes for the enzyme galactosylceramidase that hydrolyzes several galactolipids, important in the production of myelin, kidney, and epithelial cells of the colon and small intestine. Inherited genetic deletions are present in patients with early (infant) onset of Krabbe's disease.

Entry Terms : "Globoid Cell Leukodystrophy Diagnostic Reagents" , "Galactosylceramidase Deficiency Diagnostic Reagents" , "Galactocerebrosidase (GALC) Deficiency Detection Reagents" , "Krabbe Disease Diagnostic Reagents" , "GALC Gene Deletion Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Deletion, GALC"

UMDC code : 24180

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Mayo Medical Laboratories

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