Congenital Heart Disease Panel Test code: 04204 • 10–21 days turnaround time 55 genes
Congenital Heart Disease Panel
This panel analyzes genes associated with isolated and syndromic congenital heart defects, including selected genes associated with heterotaxy that have been specifically linked to congenital heart disease.
Congenital heart defects can have a wide range of genetic causes and may occur as isolated conditions or as part of a broader genetic syndrome. Genetic testing can provide a more efficient evaluation of multiple potential genetic causes based on a single clinical indication.
A genetic diagnosis may provide valuable information by helping to:
- Establish or clarify a genetic diagnosis
- Identify an underlying cause of congenital heart disease
- Reduce the need for sequential or individual gene testing
- Guide personalized medical management
- Determine whether additional evaluations or specialized screenings may be appropriate
- Help inform decisions regarding additional diagnostic procedures
- Provide information for genetic counseling and family planning
- Identify potentially affected family members who may benefit from genetic testing
Identifying the underlying genetic cause may help healthcare professionals better understand the individual's condition and develop an appropriate long-term monitoring and management plan.
Testing Consideration:
For individuals with congenital heart disease accompanied by features such as situs inversus or heterotaxy, a broader genetic evaluation that includes additional genes associated with these conditions may be appropriate. Test selection should be based on the individual's clinical presentation and the healthcare provider's assessment.