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

Definition : Molecular assay reagents intended to identify mutations in the galactosylceramidase (GALC) gene, located at chromosome 14q31, which encodes for the enzyme galactosylceramidase. Mutations at this locus have been identified in patients with Krabbe disease, characterized by low activity of the galactocerebrosidase (GALC) enzyme.

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

UMDC code : 24436

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Mayo Medical Laboratories

Company Type: Parent

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