Indications for Testing for Congenital Anomalies:

Congenitial anomalies (birth defects) often have an early presentation. By observing the children and through careful examination, the doctors or the parents can identify the indications for referring the child for a genetic test.

  • Congenital anomalies or birth defects
  • Developmental delay
  • Failure to thrive
  • Mental retardation
  • Autism or autistic spectrum disorder
  • Growth restriction
  • Short stature
  • Ambiguous genitalia
  • Heart defects
  • Suspected chromosomal syndrome

This is a partial list. A through examination by pediarticians or geneticists can help list down the symptoms and identify the appropriate testing technologies.