Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, DMPK

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

Definition : Molecular assay reagents intended to identify mutations in the dystrophia myotonica-protein kinase (DMPK) gene, located at chromosome 19q13.3, which encodes for the protein myotonic dystrophy protein kinase whose exact function is unknown. Mutations at this locus have been identified in patients with myotonic dystrophy type 1 (DM1) and muscular dystrophy.

Entry Terms : "Myotonic Dystrophy Type 1 (DM1) Gene Mutation Detection Reagents" , "Muscular Dystrophy Gene Mutations" , "Dystrophy Gene Mutation Detection Reagents" , "Muscular Dystrophy Diagnostic Reagents" , "DMPK Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Muscular Dystrophy Determination Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, DMPK"

UMDC code : 24385

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Mayo Medical Laboratories

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