Whole Exome Sequencing (80-100x)

Whole exome sequencing (WES) is used for the comprehensive analysis of the protein-coding regions of an individual's genome (the entire set of genetic material). Rather than sequencing the entire genome, WES specifically focuses on the exome, which represents only about 1-2% of the total genome but contains the majority of disease-causing mutations. By capturing and sequencing the exome, WES can identify genetic variations, such as single nucleotide variants (SNVs) and small insertions or deletions (InDels), and Copy Number Variations (CNVs), that may be associated with various diseases. This approach is useful for investigating genetic disorders with complex or unknown etiology, and for identifying potential therapeutic targets. WES has revolutionized the field of genomics, providing valuable insights into the genetic basis of diseases and paving the way for personalized medicine and targeted therapies.

Note: Genetic counseling can be provided. If interested, please send the request to this email id: [email protected]