Whole Exome Sequencing Reflex Test Offers Cost-Effective Diagnosis
Answers From the Lab
Whole exome sequencing can identify genetic variants undetected by targeted gene panel testing. In this test-specific episode of the "Answers From the Lab" podcast, 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.
"A provider can start with a phenotype-driven gene panel. If that's nondiagnostic or inconclusive, WESPR allows for reflex to a full exome sequencing analysis using the original sample and sequencing data," Dr. Marcou says.
WESPR expands the initially targeted variant assessment to a comprehensive evaluation of the protein-coding regions of about 20,000 genes. The test incorporates best practices recommended by leading medical and genetic societies.
"Most individuals who have already had a hereditary next-generation sequencing panel test on a postnatal sample performed at Mayo Clinic Laboratories since 2021 are eligible for WESPR to be added on," Rasmussen says. "For patients who don't qualify, we still have options for whole exome or whole genome sequence studies."
Dr. Marcou notes that WESPR's sensitivity and specificity in detecting variants match or exceed the capabilities of other exome sequencing offerings in the market. Mayo Clinic Laboratories' test results include a comprehensive, clinically focused report. "Providers aren't left with just a list of variants with uncertain next steps. They get an actionable narrative with appropriate clinical guidance," Dr. Marcou says.
Listen to learn more about Mayo Clinic Laboratories' WESPR test.
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