Rapid Diagnostics for Genetic Disorders in Neonates

Development of Rapid Diagnostics for Genetic Disorders in Neonates Using a Novel Targeted Genomic DNA Sequencing Analysis Panel.

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.

Inclusion Criteria: neonates of any gestational age.

• Abnormality in routine neonatal screening test.
• Unexplained neonatal hypotonia or neonate-onset seizures.
• Unexplained and abnormal biochemical laboratory findings.
• Skeletal dysplasia or joint problems.

Exclusion Criteria:

• Parental refusal of consent to participate.
• Provider refusal.
• Any condition that, in the opinion of the investigator, would interfere with interpretation of study results.