EPISODE · Feb 28, 2023 · 18 MIN
Whole genome sequencing streamlines diagnosis: Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC
from Answers from the Lab · host Mayo Clinic Laboratories
(00:31) Would each of you share a little bit about yourselves and your backgrounds? (01:47) Could you provide us with an overview of what the WGSDX test is? (02:26) How is that different from other genetic tests, like exome or microarray? (03:56) Tell us more about who benefits from these tests. (07:17) Is this test recommended by expert groups? (09:10) How do providers go about ordering this test, and what sample types are accepted? (11:12) What type of variants are detected by this test? (13:04) How would you say our test matches up to other genome tests available on the market? (14:04) What about medically actionable secondary findings? (14:55) Are there any other unique features? (16:07) Could you summarize the benefits of doing WGSDX at Mayo?
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What this episode covers
Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC, explain how Mayo Clinic Laboratories' whole genome sequencing provides comprehensive information for rapid diagnosis of hereditary disorders.
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Whole genome sequencing streamlines diagnosis: Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC
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