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

category-70x75.par.87731.image.70.75.1.sscp

SSCP is an electrophoretic mobility assay used to find variants in a large number of samples so that fewer DNA sequencing runs are needed.

Learn more about:

Mutation Detection

category-70x75.par.13415.image.70.75.1.krass-braff

DNA mutations are the most common events driving the development of cancer. 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.

Learn more about:

Genetic Rearrangement

category-70x75.par.7942.image.70.75.1.rfq

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

Learn more about:

Methylation Analysis

category-70x75.par.82216.image.70.75.1.msmsa

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.

Learn more about:
Visistat reference component

For Research Use Only. Not for use in diagnostic procedures.