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Clinical Exome Sequencing

The Clinical Exome Sequencing (CES) Expanded Panel has overcome the limitations of analyzing clinical diseases with whole exome sequencing. By selectively targeting the clinically significant genes, the panel enables comprehensive analysis with the most effective sequencing throughput.

The Human Genome consists of around 3 billion nucleotides of DNA. Out of which only 1.5% of those nucleotides get translated into proteins. The exome comprises of all the genome’s exons, which are the coding regions of the genes. Exons are termed as â€œexpressed sequences” because these regions get translated while the introns can be termed as â€œintervening sequences” as they are not expressed or translated into proteins.

Clinical exome sequencing is a comprehensive DNA test where all the clinically relevant genes are screened using Next-generation sequencing (NGS) technology. Most of the diseases related to genes are caused by mutations in the exome.  Coding regions of the DNA are called the exome, which carries out every metabolic function in the human body.

Key Features

  • Comprehensive genomic profiling of a variety of genetic diseases
  • Includes a wide range of target regions
  • Cost-effective analysis : Able to provide accurate analysis with reduced
    sequencing costs compared to WES

CLinical Exome Sequencing

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