Home > Specialties > Reagents, Molecular Assay, Gene Anomaly, Mutation, GJB2

Reagents, 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"

UMDC code : 24445

   

1-7 of 7 Match(es).

Applied Biosystems

Our newly expanded portfolio of market-leading lab services can provide your high-performance lab with a comprehensive suite of services, or just the ones you want. From business consulting and protocol development, to instrument repair and optimization, our services can help you increase your lab's productivity and efficiency.

Focus Diagnostics Inc

As part of the Quest Diagnostics family, Focus Diagnostics, Inc. is committed to providing proven and reliable products its customers have grown accustomed to throughout the years. Since its founding in 1978, Focus Diagnostics has grown its business from specialized laboratory testing to manufacturing its high-quality laboratory tests for hospitals and commercial laboratories worldwide. These manufactured tests are built in response to diagnostic testing trends identified and evaluated by Focus Diagnostics and used in Quest Diagnostics' national laboratories.

Gen-Probe Inc

Gen-Probe is a global leader in the development, manufacture and marketing of rapid, accurate and cost-effective molecular diagnostic products and services that are used primarily to diagnose human diseases, screen donated human blood, and ensure transplant compatibility.

Gen-Probe Life Sciences Ltd

Gen-Probe Life Sciences Ltd

HyTest Ltd

HyTest Ltd

Innogenetics Inc

Innogenetics NV is an international diagnostic company that develops and markets diagnostic products to improve therapy management and patient health.

QIAGEN Inc

QIAGEN is the leading global provider of sample and assay technologies. Sample technologies are used to isolate and process DNA, RNA, and proteins from biological samples such as blood or tissue. Assay technologies are used to make such isolated biomolecules, such as the DNA of a specific virus, visible for subsequent analysis.

1-7 of 7 Match(es).

 

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