Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PMP22

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, PMP22

Definition : Molecular assay reagents intended to identify mutations in the peripheral myelin protein 22 (PMP22) gene, located at chromosome 17p12-p11.2, which encodes for the protein peripheral myelin protein 22, crucial to development and maintenance of myelin. The PMP22 gene may also be involved in regulating cell division and maturation, cell shape, and cell death. Mutations at this locus have been identified in patients with Charcot-Marie-Tooth neuropathy type 1A (CMT1A), Dejerine-Sottas syndrome, hereditary neuropathy with liability to pressure palsies (HNPP), hereditary motor and sensory neuropathy III (HMSNIII), and Roussy-Levy syndrome.

Entry Terms : "Tomaculous Neuropathy Gene Mutation Reagents" , "Hereditary Pressure Sensitive Neuropathy Gene Mutation Reagents" , "Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Gene Mutation Reagents" , "Charcot-Marie-Tooth Neuropathy 1 (HMSN 1a) Gene Mutation Reagents" , "Roussy-Levy Dystasia Gene Mutation Reagents" , "Entrapment Neuropathy Gene Mutation Reagents" , "Familial Recurrent Polyneuropathy Gene Mutation Reagents" , "Dejerine-Sottas Syndrome Gene Mutation Reagents" , "Dejerine Syndrome Gene Mutation Reagents" , "Hereditary Neuropathy Gene Mutation Reagents" , "PMP22 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, PMP22"

UMDC code : 24671

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