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WESDX: Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC
Episode 154

WESDX: Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC

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 ge

Answers from the Lab

June 14, 202211m 25s

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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?

Topics

whole exome sequencingnext-generation sequencingexonsprotein-coding regionssingle nucleotide variantsinsertionsdeletionscopy number variantsgenetic illnesshereditary illnessrare disease