Congenital Heart Defects Panel

The Congenital Heart Defects Panel analyzes genes that are associated with congenital heart defects (isolated and syndromic) and/or laterality defects, including heterotaxy and situs inversus. These genes were selected based on currently available evidence and make up the most comprehensive test for congenital heart defects. This panel also includes genes associated with primary ciliary dyskinesia (PCD). There is significant clinical overlap between heterotaxy, PCD, and congenital heart defects, and it may be difficult to differentiate between these types of heart defects early in life. This test may establish a genetic diagnosis, which would eliminate the need for serial gene testing. A genetic diagnosis may guide medical management, enabling a clinician to determine the need for additional evaluations, screenings, and procedures.