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Congenital heart disease

Genetic testing for congenital heart disease (CHD)

More than one-third of CHD cases have an identifiable genetic cause.1 By testing with exome and genome that map to the largest rare disease dataset GeneDx InfinityTM, you can access information to guide diagnosis, surgical planning, prognosis, and long-term developmental care.

Limitations of current congenital heart disease testing

CHD is often identified early in life, but the underlying cause is frequently unclear. Approximately 1 in 3 patients have a genetic etiology spanning 400+ genes, making it difficult to rely on targeted testing alone.1,3

A broad genomic approach helps clarify etiology earlier, supporting care across cardiology, neonatal and pediatric intensive care units, surgery, and genetics.

  • 23% of genetic diagnoses would have been missed with a gene panel4
  • 37% of diagnoses would have been missed with CMA4
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Using exome and genome sequencing as first-line testing

Genetic causes of CHD can include chromosomal abnormalities, CNVs, and single-gene variants. Our genomic sequencing offerings capture all three in a single test, helping avoid diagnostic delays from stepwise testing.

Higher Yield
Exome and genome sequencing identify the genetic cause in 25–41% of patients, with the highest yields in NICU and CICU settings.5
Comprehensive View
Exome and genome deliver a complete genomic picture with SNVs, CNVs, structural variants, and CMA-equivalent CNV detection.
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Supported by the American Heart Association

  • The American Heart Association (AHA) states that genetic testing plays an important role in diagnosing and managing congenital heart disease.6

How genetic diagnosis impacts CHD care

Genomic findings can inform surgical planning, postoperative management, prognosis, and long-term developmental care.6 As survival rates continue to improve, understanding whether CHD has a genetic cause becomes increasingly important for anticipating complications, evaluating extracardiac involvement, and supporting families through critical decisions.7

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Genetic testing options for Congenital heart disease

GeneDx offers exome and genome sequencing tests to help identify genetic causes of congenital heart disease and support diagnosis, surgical planning, and long-term care decisions.

GenomeDx™ultraRapid

Use when:

  • Surgical or stabilization decisions must be made quickly
  • CHD with extracardiac anomalies suggesting a syndromic condition
  • Unstable or high-acuity patients in the NICU/CICU/PICU
  • Situations where genetic findings may influence prognosis, level of support, or care planning

Turnaround time: Results as soon as 2 days*

GenomeDx™ Rapid

Use when:

  • CHD with suspected genetic etiology requiring timely clarification
  • Stable patients where genomic results can inform surgical planning or risk assessment
  • Situations where genetic findings may influence prognosis, level of support, or care planning

Turnaround time: Results within 5 days*

ExomeDx™

Use when:

  • A genetic diagnosis can be clinically relevant to long term management.
  • Assessing risk of neurodevelopmental delays
  • Evaluating associated extracardiac involvement
  • A more accurate prognosis for the CHD and any associated CHD interventions
  • Forecasting post-surgical outcomes
  • Family planning

Turnaround time: Results in as soon as 2 weeks*

What we deliver

1

Detailed Reports

Powered by GeneDx Infinity,™ our expert team delivers clear, clinically relevant reports that highlight the most meaningful findings to support confident diagnoses and care planning.

2

Genetic Counseling & Clinical Support

Whenever questions arise, our certified genetic counselors and clinical specialists are available to support you and your patients.

3

Rapid Reliable Sequencing

ultraRapid tests can deliver results in as soon as 48 hours, supporting urgent decision-making in NICU and critical cardiac care.

More than just a data set

Infinity is shaped by the data of real people and real cases, and it’s changing what’s possible in rare disease care.  

Meet Sophia

Sophia’s structural heart defect was identified prenatally. After an admission to the NICU upon birth, ultraRapid genome sequencing was ordered.

Meet Violet

For Violet, less comprehensive genetic testing was ordered prenatally and in the NICU. Had genome sequencing been ordered first, Violet would likely have received a genetic diagnosis prior to her discharge home.

Meet Sarah

Sarah had no specific cardiac symptoms at birth but was diagnosed with a CHD after concerns were first identified via a routine visit to her pediatrician. After a year-long wait for a genetics evaluation, she received a genetic diagnosis.

Common questions about CHD genetic testing

Get answers to common questions about genetic testing for congenital heart disease, including when to order testing and how results can impact patient care.

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Help your patients find answers

We’re here to support every step.