Presenter Status
Resident/Ph.D/Post graduate (> 1 month of dedicated research time)
Abstract Type
Research
Primary Mentor
Jotishna Sharma
Start Date
14-5-2024 11:30 AM
End Date
14-5-2024 1:30 PM
Presentation Type
Poster Presentation
Description
Many genetic disorders in the neonatal period contribute to significant morbidity and mortality. This study evaluates the indications for genetic testing based on phenotype and compares these with the diagnostic yield of symptom driven exome sequencing and chromosome microarray in the NICU. Overall, this study highlights that while there are diagnostic limitations to exome sequencing, genetic testing remains an important adjunct to clinical care.
Identification of Genetic Disorders based on Phenotype and Subsequent Medical Management
Many genetic disorders in the neonatal period contribute to significant morbidity and mortality. This study evaluates the indications for genetic testing based on phenotype and compares these with the diagnostic yield of symptom driven exome sequencing and chromosome microarray in the NICU. Overall, this study highlights that while there are diagnostic limitations to exome sequencing, genetic testing remains an important adjunct to clinical care.
