Access exome testing for your child
Exome testing can unlock better care, sooner
When a child has unexplained symptoms, families often start searching for answers. Exome testing looks across thousands of genes at once to help identify possible genetic causes—especially when other tests have not provided clear results.
Here’s how families can access testing and what to expect next.
What is exome testing?
Exome testing (also called exome sequencing) looks at the parts of your DNA that contain most known disease-causing genes. Instead of analyzing only a few genes at a time, it examines thousands at once—helping doctors search for possible genetic causes of a child’s symptoms.
Some families may also consider genome testing, which looks at all of a person’s DNA.
Compare exome and genome testing.
Exome vs. genome testing:
what is the difference?
Exome testing looks at the parts of your DNA that are known to contain most disease-causing genetic changes, while genome testing looks at all of your DNA.
Get a virtual consult
Through our partnership with Genome Medical, you can virtually meet with a board-certified genetic counselor and start the testing process from the comfort of your home.
Work with your doctor
Genetic testing can feel like a big topic to bring up with your doctor. Here are some tips to help you feel more confident and prepared for the conversation.
Exome testing can often find answers that other tests miss
Multi-gene panels and chromosomal microarrays don’t capture the full picture.
- Panels miss nearly one-quarter of diagnoses that exome testing finds1.
- Exome testing is over twice as likely to lead to a diagnosis compared to chromosomal microarray2.
If other genetic tests have not provided answers, exome testing may be the next best step.
80% of rare diseases have underlying genetic causes³
Exome sequencing could bring them to the surface.
Families exploring testing options can also learn how exome and genome genetic testing compare for children and families.
Not sure what’s causing your child’s symptoms?
If your child has unexplained symptoms—like seizures, missed milestones, or an intellectual disability—the cause could be genetic. Exome testing is often recommended as a first step to find a diagnosis sooner.
Already have a diagnosis, but still don’t have answers?
If your child has received a diagnosis of epilepsy, cerebral palsy, autism, or developmental delay, exome testing may help you uncover the underlying cause. That insight could open the door to more tailored care, resources, and support for your family.
A genetic diagnosis can unlock more personalized care and support
- Work with your doctor to create a care or treatment plan for your child’s individual needs.
- Connect with individuals and families that have children with the same diagnosis for support from others in similar situations.
- Search for clinical trials.
- Get insurance coverage for medical equipment or therapies.
Healthcare provider? Learn more about whole exome sequencing for clinicians.
More accessible genetic testing for children with epilepsy
Cost should never stand in the way of answers. The Epilepsy Partnership Program was designed to help make testing an option, despite cost. If your doctor recommends exome testing for your child and they are eligible, this program may cover the cost—even if your insurance doesn’t or a claim gets denied.
Talk to Genome Medical to see if your child is eligible.
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We’re scientists, but we’re also parents, siblings, and caregivers who understand how powerful an answer can be.