WHOLE EXOME SEQUENCING (WES)

Whole Exome Sequencing (WES) is a genetic testing technique that focuses on sequencing the exome – the portion of the genome that contains protein-coding genes. While the exome makes up only about 1-2% of the entire genome, it contains the majority of mutations that are known to cause genetic disorders. 

Through Whole Exome Sequencing test you can learn crucial informations as following; 

Genetic Variants: WES uncovers single nucleotide variations (SNVs), insertions, deletions, and other types of mutations within the protein-coding regions of genes. These variations can potentially disrupt gene function and contribute to the emergence of genetic disorders.

Mendelian Disorders: This technique is particularly adept at diagnosing Mendelian disorders – genetic conditions resulting from mutations in a single gene and following predictable inheritance patterns. These encompass a broad spectrum of rare ailments like cystic fibrosis, muscular dystrophy, and specific inherited metabolic disorders.

Rare and Undiagnosed Diseases: WES proves invaluable in diagnosing rare and previously undiagnosed diseases, enabling physicians to pinpoint the genetic basis of a patient's symptoms and establish an accurate diagnosis.

Carrier Status: By assessing an individual's carrier status for specific genetic conditions, WES aids in family planning by identifying the risk of passing on genetic disorders to offspring.

Pharmacogenomics: WES provides insights into an individual's potential responses to various medications, as genetic variants within exonic regions can influence drug interactions, effectiveness, and the likelihood of adverse reactions.

It's important to bear in mind that while WES offers a focused examination, it primarily addresses protein-coding genes. Variations in non-coding regions of the genome, which also play critical roles in gene regulation, are not encompassed by WES.

As with any genetic testing, the interpretation of WES results should be entrusted to genetic counselors and medical professionals, who can provide accurate insights into the implications of the findings, potential health risks, and appropriate courses of action.