Home > Specialties > Reagents, Molecular Assay, Gene Anomaly, Mutation, SLC17A5

Reagents, Molecular Assay, Gene Anomaly, Mutation, SLC17A5

Definition : Molecular assay reagents intended to identify mutations in the solute carrier family 17 (anion/sugar transporter) member 5 (SLC17A5) gene, located at chromosome 6q14-q15, which encodes for a protein that moves free sialic acid out of the lysosomes to other parts of the cell. This inherited genetic mutation has been identified in patients with free sialic acid storage disorders, including early-onset (neonatal) severe infantile free sialic acid storage disease (ISSD) and a milder form, Salla disease.

Entry Terms : "N-Acetylneuraminic Acid (NANA) Storage Disease Gene Mutation Reagents" , "Free Neuraminic Acid Storage Disease Gene Mutation Reagents" , "Intermediate Severe Salla Disease Gene Mutation Reagents" , "Salla Disease Gene Mutation Reagents" , "Infantile Free Sialic Acid Storage Disease (ISSD) Gene Mutation Reagents" , "Free Sialic Acid Storage Disorder Gene Mutation Reagents" , "SLC17A5 Gene Mutation Detection Reagents"

UMDC code : 24967


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 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).


Medical Product Guide Optometric Management Product Guide