Answers from the Lab

Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC, discuss whole exome sequencing (WES) at Mayo Clinic Laboratories. This comprehensive, next-generation sequencing evaluation investigates approximately 20,000 genes for variations associated with genetic disease. Recommended by the American College of Medical Genetics and Genomics as a first-line test for individuals with one or more congenital abnormalities, WES enables individualized insights on genetic variants that can facilitate diagnosis, prognosis, and management decisions.

Show Notes

(00:32):
Before we jump in, would each of you share a little bit about your background and yourselves?
 
(01:18):
Dr. Marcou. could you provide us with an overview of what the WESDX test is?
 
(01:50):
Marissa, would you help explain why this test is important?
 
(03:10):
In your experience who would benefit from WESDX,

(05:12):
How does a provider order A WES DX and secondarily what type of samples are accepted?

(06:24):
What types of variants are detected by the test?
 
(07:47):
There are a lot of exome tests available. What are some other unique features that set WESDX apart?
 
(09:52):
Last question, could you summarize the benefits of doing WESDX at Mayo?

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