Home > Specialties > Reagents, Molecular Assay, Gene Anomaly, Mutation, PKHD1

Reagents, Molecular Assay, Gene Anomaly, Mutation, PKHD1

Definition : Molecular assay reagents intended to identify mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene, located at chromosome 6p21.1-p12, which encodes for the protein fibrocystin (also known as polyductin) that may act as a receptor, interacting with molecules outside the cell and receiving signals that help the cell respond to its environment. Fibrocystin may be involved in connecting cells together (adhesion), keeping cells apart (repulsion), and promoting the growth and division of cells (proliferation). Mutations at this locus have been identified in patients with early-onset polycystic kidney and hepatic disease type 1.

Entry Terms : "Potter's Type 1 Cystic Kidney Disease Gene Mutation Reagents" , "Polycystic Kidney and Hepatic Disease Type 1 (PKHD1) Gene Mutation Reagents" , "Polycystic Kidney Disease, Infantile Gene Mutation Reagents" , "Autosomal Recessive Polycystic Kidney Disease (ARPKD) Gene Mutation Reagents" , "PKHD1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Monogenic, Polycystic Kidney"

UMDC code : 24668


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).


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