Pediatric Genetic Evaluation

What is a genetic evaluation? Is it safe for my child?

If your child could have a genetic disorder, your child’s doctor may refer him or her for a genetic evaluation. Common reasons for referral include birth defects, disorders of growth, neurobehavioral disabilities, and/or non-familial physical features.

A pediatric genetic evaluation can better help you care for your child by:

• Understanding your child’s symptoms or diagnosis can alert you to other medical care your child may need, now or in the future
• Knowing your child’s symptoms or diagnosis can connect you to support for your family or support your child will need in life, such as school or work
• Understanding your child’s symptoms or diagnosis can help you learn about genetic risks to others in the family, including other children you may have

What to expect from a pediatric genetic evaluation

The genetics team as Golisano will review your child’s health history and your family history. They will look at all this information for clues of a genetic disorder. A full physical examination will be taken by your child and our team will review whether your child may have features of an underlying genetic diagnosis. 

The team will make medical recommendations and partner with your child’s pediatrician for long-term care, including available treatment or referrals to other specialists.