Whole exome sequencing for hereditary disorders
Test in Focus
Whole exome sequencing (WES) is a comprehensive, next-generation sequencing evaluation used by Mayo Clinic Laboratories to examine approximately 20,000 genes for variations linked to genetic illness. In this “Test in Focus” episode of the "Answers From the Lab" podcast, Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC, discuss how this comprehensive test delivers actionable answers on diagnosis, prognosis, and treatment guidance for individuals identified with a hereditary disorder.
“WES is now a widely-used, standard of care genetic test for patients with suspected underlying genetic disorders that can allow for identification of a specific variant or variants causing the patient's disorder,” Ellingson says. “Making a genetic diagnosis can allow for tailored medical management and treatment for patients and ultimately influence morbidity and mortality.”
Included in the American College of Medical Genetics and Genomics 2021 clinical guidelines, WES is recommended as a first-tier test for individuals with one or more congenital anomalies, as well as for individuals with developmental delay or intellectual disability. WES also is recommended as second-line testing for patients with clinical features or family history of genetic illness but for whom previous genetic studies have been negative.
Our WES evaluation is backed by a team of laboratory scientists, genetic counselors, and clinicians, who are integrated into the clinical practice at Mayo Clinic. WES results are interpreted by genetic disease experts who are available to answer questions about test finding or the need for additional testing.
“Mayo Clinic has a unique expertise to contribute to the understanding of patient’s results because we are truly an integrated practice,” Dr. Marcou says. “We can get input on a patient’s clinical features or the significance of individual variants identified from some of the world’s leading clinical experts in a given condition that are members of our clinical practice.”
Listen to learn more about how WES can elevate outcomes for individuals affected by genetic disorders
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Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC, discuss whole exome sequencing (WES) at Mayo Clinic Laboratories. The comprehensive evaluation uses next-generation sequencing to detect for single nucleotide variants, small insertions or deletions, and copy number variants on approximately 20,000 genes, enabling precision answers to accurately diagnose, manage, and treat patients with identified inherited illness.
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