It is estimated that about one quarter of all congenital anomalies may have a genetic cause.  Recent advances in cytogenetic and molecular techniques in the last two decades have led to the identification of previously undetected chromosomal abnormalities and gene variants. Pathogenic sequence variants may be inherited from either one or both parents, or be caused by a sporadic new mutation (de novo).  Single-gene variants seem to be more often associated with multiple congenital anomalies that are syndromic, rather than with isolated malformations, though new research is increasingly uncovering single-gene defects that cause isolated anomalies. The University of Chicago Genetic Services Laboratories offers a wide variety of panels for the diagnosis of congenital anomalies.

Any gene on any of the panels below can also be ordered individually. Please contact us directly for cost and CPT code information.