Improved insurance coverage of exome sequencing in an outpatient medical genetics clinic increases in diagnoses and positively impacts clinical management
Genetics in Medicine(2022)
摘要
Exome sequencing (ES) is a cost-effective and powerful tool to diagnose patients suspected to have a Mendelian disorder. ES is also recognized to impact care and can inform prognosis, options for treatment and surveillance, recurrence risks, condition-specific support, and opportunities for research in patients both receiving a diagnosis and those with negative test results.
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关键词
medical genetics clinic increases,medical genetics,exome,improved insurance coverage
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