Whole Exome Sequencing Reflex Test Offers Cost-Effective Diagnosis: Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC
Description
Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC, explain how Mayo Clinic Laboratories' WESPR whole exome sequencing reflex test provides cost-effective diagnosis of complex genetic conditions. Using samples and data from previous targeted gene panels, WESPR's wider net can identify undetected genetic variants.
(00:32 )
Would each of you share a little bit about yourselves and your background?
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Could you provide us with an overview of the whole exome reflexing panel?
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Is this different from our whole exome sequencing panel and our whole exome reanalysis panel?
(04:00 )
Tell us more about who benefits from this test.
(06:17 )
What is the clinical utility of this testing?
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Would you help providers understand how to go about ordering?
(11:23 )
Could you tell us more about the types of variants identified by this test?
(13:39 )
Based on those performance characteristics, how does our test match up to other exome tests available in the market?
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Are there any other unique features you would like to highlight?
(15:57 )
What is the turnaround time for the reflex panel?
(16:14 )
Can the results from the WESPR test be reanalyzed in the future as new genetic knowledge emerges?
(16:56 )
How are variants reported, especially variants of uncertain significance? And does the report include recommendations?
(19:31 )
Would you summarize the benefits of the WESPR at Mayo Clinic Laboratories?
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