Answers from the Lab

Mayo Clinic Laboratories

A Mayo Clinic curated podcast sharing Mayo Clinic knowledge and advancements on the state of testing, science, and people who are making it happen behind the scenes.

  1. Whole Exome Sequencing Reflex Test Offers Cost-Effective Diagnosis: Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC

    2 天前

    Whole Exome Sequencing Reflex Test Offers Cost-Effective Diagnosis: Cherisse Marcou, Ph.D., and Kristen Rasmussen, M.S., CGC

    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?   (01:42) Could you provide us with an overview of the whole exome reflexing panel?   (02:53) 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?   (08:07) 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?   (14:30) 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?

    22 分鐘

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A Mayo Clinic curated podcast sharing Mayo Clinic knowledge and advancements on the state of testing, science, and people who are making it happen behind the scenes.

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