Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GJB2

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GJB2

Definition : Molecular assay reagents intended to identify mutations in the gap junction protein, beta 2 (26kDa connexin 26) (GJB2) gene, located at chromosome 13q11-q12, which encodes for a gap juniction pprotein, beta 2 (connexin 26) forms channels called gap junctions between neighboring cells. Mutations at this locus have been identified in patients with neurosensory nonsyndromic hearing loss and deafness type 3 (NSHLD3); they are also associated with Vohwinkel's syndrome, palmoplantar keratoderma with deafness; Bart-Pumphrey syndrome, and keratitis-ichthyosis-deafness (KID) syndrome.

Entry Terms : "Keratitis-Ichthyosis-Deafness Gene Mutation Detection Reagents" , "Neurosensory Deafness with Palmoplantar Keratoderma Hyperkeratosis Gene Mutation Detection Reagents" , "DFNB1 Locus Nonsyndromic Congenital Deafness Gene Mutation Detection Reagents" , "DFNA3 Locus Nonsyndromic Congenital Deafness Gene Mutation Detection Reagents" , "Autosomal Nonsyndromic Hearing Loss/Deafness (NSHLD) Gene Mutation Detection Reagents" , "Nonsyndromic Hearing Loss/Deafness (NSHLD) Gene Mutation Detection Reagents" , "Deafness Gene Mutation Detection Reagents" , "GJB2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GJB2"

UMDC code : 24445

Filters
Manufacturers
Distributors
U.S.companies only
Suppress Subsidiary Companies
   

No results at this time.

 

Medical Product Guide Ophthalmology Management Product Guide