Talk to your doctor about genetic testing for developmental delay

Concerned about your child's developmental delays? These tools can help you start a conversation with your child's doctor about whether genetic testing may be appropriate.

Start the conversation before your appointment

Pediatric visits can go quickly. Sending a message ahead of time lets your doctor know what's on your mind and gives you both a chance to discuss it at your next appointment.

Copy and paste this message into your patient portal.

What areas of your child’s development are you concerned about?

Select any area where you have a concern. The milestones under each area are examples only — check the area even if your concern is not on the list. Everything is optional — your answers are not saved or shared.

1Select what concerns you

Milestones in this area, for example:

Social smiling (2 months)

Parallel play (2 years)

Plays and shares with others (3 years)

Motor (fine and gross)Examples

Milestones in this area, for example:

Sits without support (9 months)

Walks alone (18 months)

Runs and climbs stairs (2 years)

Speech/LanguageExamples

Milestones in this area, for example:

Babbles (9 months)

Says single words (18 months)

Puts two words together (2 years)

CognitiveExamples

Milestones in this area, for example:

Looks for hidden objects (12 months)

Follows simple instructions (2 years)

Sorts shapes and colors (3 years)

Adaptive (self-help)Examples

Milestones in this area, for example:

Drinks from a cup (18 months)

Uses a spoon (2 years)

Dresses with help (3 years)

2Your conversation guide

I’ve noticed that my child is having delays in a few areas of development. The areas that I’m concerned about are:

Select an area on the left to add it here.

Social/Emotional

Motor (fine and gross)

Speech/Language

Cognitive

Adaptive (self-help)

I’ve learned that when children have delays across multiple areas of development, genetic testing may help identify an underlying cause. Could genetic testing be appropriate for my child?

I’d like to understand whether there could be an underlying reason for my child’s delays. If we can find an answer, it may help us make more informed decisions about their care and what they may need in the future.

I’m interested in exome or genome testing through a company called GeneDx. They have worked with pediatricians and genetic specialists for more than 25 years to uncover the genetic cause of rare diseases.

Thank you for taking the time to discuss this to see if it’s a good option for my family.

Tip: Screenshot this script for your next appointment

Give your doctor information about testing

GeneDx can help your child’s care team understand testing options and how to place an order. Print or email this resource to your doctor — it will outline why genetic testing is recommended and how to work with GeneDx to place the order.

Why ask about genetic testing?

Developmental delays can have an underlying genetic cause, and genetic testing may help families find answers.

The American Academy of Pediatrics recommends comprehensive genetic testing, including exome sequencing and chromosomal microarray (CMA), as part of the evaluation for many children with developmental delays.

Learn more about genetic testing for developmental delay

What happens if testing is ordered?

1

Your doctor orders a test

Your doctor reviews your child’s health history, discusses testing options, and orders the right test for your child.

2

Your child’s sample is collected

A blood sample, cheek swab, or other specimen is collected and sent to GeneDx for analysis.

3

Results are shared and discussed

Your doctor reviews the results with you and helps decide next steps, with guidance from genetic experts.

More resources for families

Developmental delay genetic testing

Learn more about developmental delay and how genetic testing may help uncover an underlying cause.

What is genetic testing?

Learn how genetic testing works and what it may help uncover.

Types of genetic testing

Explore the different types of genetic tests and how they are used.

Cost and insurance / financial support

Learn more about insurance coverage and financial support for genetic testing.

Diagnosis is action

Ready to move forward with testing?

See how testing works