What is Clinical Exome Sequencing?

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 “expressed sequences” because these regions get translated while the introns can be termed as “intervening 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.

Clinical Exome sequencing is a cost-effective approach when whole-genome sequencing is not necessary or is not required. Sequencing only the coding regions of the genome help the researchers to focus on the genes that are most likely to affect the specific phenotype. 

Advantages of Clinical Exome Sequencing

• Identifies variants/mutants across a broad range of clinical applications
• Achieves comprehensive coverage of coding regions
• Provides a cost-effective alternative to whole-genome sequencing
• Produces a smaller, more manageable data set for faster, easier data analysis compared to whole-genome approaches

Who should go for Clinical Exome Sequencing?

Clinical Exome Sequencing is performed during any age of life and is generally performed due to the following reasons:

• suspected to have any genetic condition
• have a complex medical history that may have affected many organs and/or body systems
• Inconclusive previous genetic testing
• for prenatal analysis 
• Performed for a range of clinical presentations that require a broad search for variants across the spectrum.

Over the last few years, advances in next-generation sequencing technologies have decreased the cost of sequencing, improved accuracy, and also has improved the turnaround time of generating the data.

Genes2Me offers Clinical Exome Sequencing test for known inherited disorders which covers all exons for ~8.5K genes associated with various diseases. Clinical Exome Sequencing covers all clinically important regions including disease specific hotspot regions at a sequencing depth of >100x.