Genetic diseases are caused by various genome abnormalities and can be inherited from parental genes or, more often, caused by new mutations or alterations in the genetic material of an individual. Some of the more commonly observed genetic modifications include single mutations, deletions, insertions, inversions, copy number changes, and methylation differences. We offer a number of Applied Biosystems® kits and workflow solutions that, when used together with our genetic analyzers, help you get answers to your genetic disease research questions.

Screening Prior to Sequencing

 

Uses electrophoretic mobility differences to find variants in a large number of samples so that fewer DNA sequencing runs are needed.

 

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Mutation Detection

 

DNA mutations are the most common events driving genetic disease. Our kits and genetic analysis instruments help simplify your application development process—for example SNP detection (a single SNP or up to 10 SNPs located on different DNA segments) and sequencing complete genes.

 

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Genetic Rearrangement

 

Genetic rearrangements—including duplications, inversions, and deletions of DNA fragments—are known to contribute to many genetic diseases.

 

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Methylation Analysis

 

DNA methylation plays an important role in the regulation of gene expression and, consequently, in the appearance of various disease states. Using our methylation detection solutions, you can determine the overall level of methylation or identify the methylation status of a specific CpG.

 

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