Overview

Whole Exome Sequencing (WES) is a genomic test that examines the complete coding region of the genome, including all coding regions and splice junctions. Unlike targeted gene panels, WES analyzes variations in the protein-coding region of any gene, offering a broader scope for identifying disease-causing mutations. Since most known disease-causing mutations occur in exons, WES is often more effective than whole genome sequencing.

Methodology

Genomic DNA extracted from blood is used to simultaneously capture and sequence the coding regions of all genes on an Illumina platform. The resulting sequence data is then aligned and analyzed to identify sequence variants.

Key Highlights of the Test:

-Patients with a combination of symptoms that do not provide a precise diagnosis or phenotype of a suspected genetic disease.

-Cases where a delayed differential diagnosis could have a significant impact on the patient’s quality of life.

-Situations where a stepwise diagnostic approach would be costly and time-consuming.

-When physicians are unable to provide a plausible diagnosis based on the presented symptoms.

-When no other available techniques can confirm the diagnosis and put an end to the diagnostic odyssey.

Whole Exome Sequencing offers a comprehensive analysis of the coding regions of the genome, providing valuable insights into genetic diseases and enabling physicians to make more accurate diagnoses for their patients.