Home / Tests
At Sapiens Genetics, we offer a pioneering approach to genetic diagnostics through our Whole Exome Sequencing (WES) service. WES enables a comprehensive analysis of the protein-coding regions of all nuclear and mitochondrial genes (~20,000) within the human genome. While these regions make up only about 1% of the entire genome, they harbor approximately 85% of disease-causing mutations, making WES one of the most powerful tools in the identification of genetic disorders.
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.
At Sapiens Genetics, we are committed to delivering the highest standards of genetic analysis through our WES service. Here’s what makes our WES offering unique:
We provide robust and uniform sequencing data with an average coverage of 154x at 100M sequencing reads, ensuring that over 99.6% of base pairs are covered at least 20x.
Our service includes sequencing of the mitochondrial genome (mtDNA) with a mean coverage of 9362x, ensuring comprehensive detection of mutations.
Our in-house bioinformatics pipeline ensures precise data analysis, with a focus on accuracy and reliability.
Our team of geneticists and clinicians provides thorough and insightful interpretations, utilizing the latest scientific research and databases.
We deliver detailed, easy-to-understand reports that help healthcare providers make informed decisions about patient care.
We ensure that results are available within 6 weeks, enabling timely interventions.
We offer optional analysis of secondary findings based on the latest ACMG guidelines.
Sapiens Genetics stands out with its commitment to excellence in genetic testing. Our WES service not only provides detailed analysis but also offers added benefits like the optional analysis of clinically relevant non-coding variants and improved coverage of challenging genes. We believe in transparency, accuracy, and delivering results that truly make a difference in patient care.
Our WES service achieved a top score in external quality assessment by GenQA.
For more information or to schedule a genetic counseling appointment, please contact us.
Sapiens aims to bridge the gap between genetic research and practical healthcare applications. By providing accurate and reliable genetic information, the company empowers individuals and healthcare professionals to take proactive steps in managing health and preventing disease.
