Diagnostic yield of genetic testing in 324 infants with hypotonia.
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ABSTRACT:
SUBMITTER: Sharma S
PROVIDER: S-EPMC9291145 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
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Diagnostic yield of genetic testing in 324 infants with hypotonia.
Sharma Sonal S Repnikova Elena E Noel-MacDonnell Janelle R JR LePichon Jean-Baptiste JB
Clinical genetics 20210916 6
This retrospective cohort study was designed to determine the yield of genetic tests in hypotonic infants and develop a diagnostic algorithm. Out of 496 patients identified by International Classification of Diseases (ICD) 9/10 coding, 324 patients met the inclusion criteria. Diagnostic yields were 32% for karyotype, 19% for microarray, 30% for targeted genetic tests, 38% for gene panels, and 31% for exome sequencing. In addition, we considered the diagnostic contribution of ancillary tests, inc ...[more]
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