Test in Focus: A streamlined solution to identify genetic illness

Test in Focus

With genetic variations causing 80% of rare disease, identifying the gene(s) responsible for a condition is critical to accurately diagnose and manage patients. Testing to identify a genetic cause of an underlying illness, however, can be costly, time-consuming, and result in diagnostic odysseys that lead to more questions than answers.

Mayo Clinic Laboratories has developed a simplified yet comprehensive approach to detect genetic variations linked to hereditary illness. Our whole exome sequencing (WES) evaluation uses next-generation sequencing to detect for alterations in about 20,000 genes. Enabling precision insights on diagnosis, prognosis, and disease management, WES test results are interpreted by genetic disease experts who are integrated into the clinical practice at Mayo Clinic. This collaboration allows for direct consultation with practicing clinicians in instances of complex or unclear cases.

Listen to this week’s “Test in Focus” episode of the "Answers From the Lab" podcast to learn more about how WES testing can provide a cost-effective alternative to establishing diagnosis and improving outcomes for patients affected by genetic disease.

Samantha Rossi