Developmental implications of genetic testing for physical indications.
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ABSTRACT:
SUBMITTER: Baribeau DA
PROVIDER: S-EPMC9626575 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
Publications
Developmental implications of genetic testing for physical indications.
Baribeau Danielle A DA Hoang Ny N Selvanayagam Thanuja T Stavropoulos D James DJ Costain Gregory G Scherer Stephen W SW Vorstman Jacob J
European journal of human genetics : EJHG 20220906 11
In children undergoing genetic testing for physical health concerns, we examined how often the results also revealed information about their risk for neurodevelopmental disorders. The study sample consisted of 3056 genetic tests (1686 chromosomal microarrays--CMAs, and 1378 next-generation sequencing--NGS panels) ordered at a tertiary pediatric hospital because of a physical/congenital health problem. Tests ordered to investigate developmental concerns were excluded. Pathogenic, or likely pathog ...[more]
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