eP422: Diagnostic rate of genetic testing in a pediatric research cohort with clinical insurance denials

Genetics in Medicine(2022)

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摘要
The clinical utility and diagnostic yield of exome sequencing (ES) and multi-gene panel tests in patients with suspected genetic conditions is well-established. Despite this, many patients continue to face barriers to clinical genetic testing including insurance denials. In most cases, it is impossible to know how many patients whose clinical genetic testing is denied by insurance may have an actionable variant because they never receive access to testing. As a result, little research approached this issue.
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