400
Participants
Start Date
July 13, 2020
Primary Completion Date
December 31, 2025
Study Completion Date
June 30, 2026
Neonate WGS Testing
"Neonates will undergo whole genome sequencing, and analysis with a targeted panel of genes likely to cause genetic disorders in the first year of life. If no diagnosis is identified, sequenced data will be analyzed using a whole exome filter. Performed in a CLIA-certified lab. Pathogenic, likely pathogenic, and VUS in genes related to the phenotype will be returned to the care team and family.~Parents will be enrolled for the purpose of trio analysis with the child to assist in determining the pathogenicity of variants in genomic sequencing. Pathogenic and likely-pathogenic findings will be reported to the parents in the setting of genetic counseling.~Sibling will be enrolled and have samples collected for use in the genetic analysis only if deemed essential. Results will be reported to the parents in the setting of genetic counseling."
UPMC Children's Hospital of Pittsburgh, Pittsburgh
Jerry Vockley, MD, PhD
OTHER