Genetic Evaluation for Children

A genetic evaluation for your child can help determine if there is a genetic cause for his/her developmental delays or health problems.

Genetic Evaluation

A genetic evaluation will typically involve meeting with a genetic counselor and/or a medical geneticist. The genetic provider will:

  • Obtain your child’s medical and developmental history
  • Obtain your family and pregnancy history
  • Ask you detailed questions about your family history. You may be asked to complete a family history questionnaire prior to your visit and bring it with you.
  • Perform a physical examination
  • Determine if any genetic testing or other evaluations are needed to help provide a genetic diagnosis or to help guide medical management for your child.

Genetic Testing

If the genetics provider orders a genetic test for your child this is usually done on a small sample of blood or body tissue. Sometimes it is also necessary to test one or both parents to help interpret the genetic test results of the child. If one of your close relatives already had a genetic test for the same disorder it is very helpful to bring a copy of that lab report to your genetics visit. The time it takes to get results varies depending on the test. Your genetic provider will contact you with your child’s test results.


After the visit, the genetic provider may call to:

  • Discuss your child’s test results
  • Answer any additional questions
  • Identify any further needs
  • Recommend a follow-up appointment with Genetics, if needed
  • Make referrals to other health care professionals, if needed