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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
HEALTH_SERVICES_RESEARCH
Masking
NONE
Enrollment
100
Single 0.5 mL venous or capillary blood sample.
Sharp Mary Birch Hospital for Women and Newborns
San Diego, California, United States
Identification of genes associated with congenital diseases
A finding that a participant has one of the genes among the 254 included in the targeted gene panel being used. These genes are associated with metabolic, lysosomal storage, immunodeficiency, hemoglobinopathy, and channelopathy diseases, sensorineural hearing loss, and other conditions typically exposed through newborn screening.
Time frame: birth through hospital discharge or up to 1 month of age
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