Whole Exome Sequencing (WES) is a sophisticated genetic test that focuses on the exome—the protein-coding regions of the genome.
Whole Exome Sequencing (WES) is a sophisticated genetic test that focuses on the exome—the protein-coding regions of the genome. These regions are critical as they contain the genetic instructions that influence the development, growth, and overall health of an individual. By examining the exome in detail, WES identifies mutations that could lead to various genetic disorders, providing valuable insights into complex and rare conditions.
WES is particularly beneficial for individuals with:
Those with symptoms that suggest multiple possible diagnoses.
Conditions that can be caused by mutations in different genes.
Cases where a specific genetic test is not available.
Individuals who have undergone genetic testing before but did not receive a definitive diagnosis.
Average coverage of 154x at 100M sequencing reads, with over 99.6% of base pairs covered at least 20x.
mtDNA sequencing with a mean coverage of 9362x for comprehensive mutation detection.
In-house bioinformatics pipeline ensuring precise data analysis with a focus on accuracy.
Thorough and insightful interpretations by our team of geneticists and clinicians.
Detailed, easy-to-understand reports to help healthcare providers make informed decisions.
Contact us today to schedule your diagnostic tests or learn more about our services.