Clinical Research Directory

Inclusion Criteria: One of the following criteria required. 1. Neonates admitted to the Neonatal Intensive Care Units in one of the study hospitals 2. Clinical genetic testing or a genetic consult is ordered 3. Subject has one major structural anomaly or three or more minor anomalies 4. Abnormal laboratory testing suggestive of a genetic disease 5. Abnormal response to standard therapy for a major underlying condition Exclusion Criteria: 1. Previously performed exome/genome sequencing on patient 2. Any infant in which clinical considerations preclude drawing 1.0 ml of blood 3. Has features pathognomonic for a large chromosomal aberration (Trisomy 13, 18, 21 or other) 4. Parents are unwilling to have genomic reports placed in the medical record or sent to their primary care pediatrician 5. Parents refuse consent