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Rapid Diagnostics for Genetic Disorders in Neonates

Sharp HealthCare · 2025
ClinicalTrials.gov · Datasets · License: Public Domain · 2025
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The goal of this study is to test a prototype genomic blood analysis for identifying rare diseases in infants hospitalized in the neonatal intensive care unit (NICU). The main question it aims to answer is: Does the prototype accurately identify genetic variation(s) associated with an infant's health condition? Researchers will compare the prototype's gene identification to traditional genome sequencing methods of gene identification. Participants will be asked to provide a very small (one-tenth of a teaspoon) sample of blood, one-time.
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