Genetics Northern California

Pediatric Genetics

Pediatric pt small

Why was my child referred for a Genetics visit?
How do I  prepare for a pediatric genetics appointment? 
What should I expect at a pediatric genetics appointment?
What happens after the visit?


Genetics is a medical specialty focused on inherited conditions and birth defects. At a pediatric genetics visit, you and your child meet with a doctor trained to diagnose and care for people with genetic conditions.

 You can learn more about what to expect by clicking one of the handouts below:
    What to Expect at Your Child's Genetic Visit
    What to Expect at Your Child's Genetic Visit for Hearing Loss

Why was my child referred for a Genetics visit?
There are many reasons a child might be referred for a Genetics visit. Here are some common ones:

  • Your child was born with birth defects. 
  • Newborn screening shows a risk for a genetic condition.
  • Your child’s doctor suspects a genetic condition. 
  • There is a family history of a genetic condition that affects children. 
  • Your child is growing slowly or has slow development.

How do I  prepare for a pediatric genetics appointment? 
You do not usually need to do anything before the genetics appointment. However, here are some tips to help you feel more prepared:   

  • Review the age your child reached important milestones (Ex: rolled over, sat up, walked, first word)
  • Write down any questions you have
  • Gather your child’s outside medical records or school evaluations  

What should I expect at a pediatric genetics appointment?
The first time a child is seen, the visit may last an hour or longer.  Both a genetics doctor (called a medical geneticist) and a genetic counselor may be present.

The genetic experts usually do the following things:

  • Review the reason your child was referred.
  • Ask about the pregnancy and delivery.
  • Ask about your child’s learning and behavior.
  • Review your child’s medical record.
  • Ask about the family history and ancestry.
  • Measure different parts of the child’s body.
  • Talk with you about any possible diagnosis and next steps.
  • Talk about how conditions run in a family.
  • Provide emotional support.

What happens after the visit?
You can contact your genetics doctor or genetic counselor by phone or secure e-mail if you have questions or concerns after your visit. If a follow-up test was ordered, you will be told when to expect the results and how the results will be given to you.

Last reviewed: February 1, 2021
Reviewed by: Kimberly Barr, MS, LCGC