Health in Code offers the most complete genetic study for the assessment of patients with congenital heart diseases:
NGS Panel with 114 genes related to congenital heart diseases
Copy number variation analysis through SNP arrays
Congenital heart diseases are the most frequent cause of congenital malformations in newborns, and are the first cause of infant death related to congenital malformations. Their prevalence is 8 to 14 out of every 1000 live births. Most congenital heart diseases have a multifactorial etiology. It is estimated that in 8%-10% of cases the cause is a chromosomal abnormality, and 3%-5% present within the context of a monogenic syndrome.
Specific molecular diagnosis for a genetic syndrome allows for appropriate advice and early medical follow-up. The American Heart Association (AHA) and the American Academy of Pediatrics have pointed out the main reasons to determine the genetic cause of congenital heart diseases: (1) identifying other organs and systems susceptible of medical follow-up; (2) obtaining specific information about the prognosis; (3) informing families about risks of recurrence; and (4) identifying relatives at risk and providing them with the necessary studies, including genetic study.