Concerns for a genetic condition in a newborn can be raised by the presence of multiple congenital anomalies, neurologic findings, growth restriction, or other suggestive findings at birth or in the prenatal period. Expeditious diagnostic genetic testing can be important to allow for rapid treatment and management of the infant and may help reduce the risk of death in critical cases. Karyotype analysis, with or without fluorescence in situ hybridization (FISH), microarray analysis, exome sequencing, and whole genome sequencing (rapid genome sequencing when indicated) are all possible testing options, with the unique clinical scenario informing selection of the appropriate test(s) for optimal patient management in the newborn period.

Refer to ARUP Laboratories’ test offerings below.