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

Definition : Molecular assay reagents intended to identify mutations in the glucokinase (hexokinase 4) (GCK) gene, located at chromosome 7p15.3-p15.1, which catalyzes the first step in glucose utilization by the beta cells and liver at physiologic glucose concentrations; the specific role of GCK is to provide glucose-6-phosphate for the synthesis of glycogen. Mutations at this locus have been identified in patients with early-onset (neonatal) mild familial hyperinsulinism (FHI); they are also associated with adult-onset diabetes type II.

Entry Terms : "Maturity Onset Diabetes of the Young Type 2 (MODY2) Gene Mutation Detection Reagents" , "GCK-Related Hyperinsulinism Gene Mutation Detection Reagents" , "Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Gene Mutation Detection Reagents" , "Familial Hyperinsulinism (FHI) Gene Mutation Detection Reagents" , "Hyperinsulinism Gene Mutation Detection Reagents" , "GCK Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Polygenic, Diabetes" , "Diabetes Diagnostic Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GCK"

UMDC code : 24441

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