Pediatric Genetic Evaluations

Approximately three percent of all living newborns have a birth defect or health problem. These conditions may be evident shortly after birth or later in the child's life. A study published in 2004 in the American Journal of Human Genetics found that a significant genetic component was found in 71% of children admitted to pediatric hospitals (AJHG 74:121-127, 2004).

Children who are not reaching developmental milestones or have characteristics of a genetic condition may be referred to one of Emory Genetics' Specialty or General Pediatric Genetics Clinic. Specialty clinics are held for patients with Inherited Metabolic Disorders, Down Syndrome, Fragile X Syndrome and Lysosomal Storage Diseases. Appointments are scheduled at Emory Genetics located at 2165 North Decatur Road in Decatur, GA. Families meet with a team of genetic professionals, including an M.D. Clinical Geneticist. Scroll down for more information on an individual clinic. Potential reasons for pediatric genetic counseling & e valuation include a child with a:

  • birth defect, or suspected birth defect
  • suspected or diagnosed genetic syndrome
  • chromosomal syndrome
  • metabolic disorder
  • developmental delay
  • family history of a genetic condition

The following forms can be printed out and completed prior to your genetics appointment. Please send completed forms and medical records at least two weeks in advance to allow physicians and counselors time to evaluate the information and to expedite the appointment process.

  1. New Peds Patient Packet
  2. Directions