Monday, May 26 is Memorial Day. Our lab and all support services will be closed. Kit orders placed on May 26 will be sent on May 27, and all in-transit patient samples will be held by the carrier and received on May 27. If you need assistance, please leave a message at 888-729-1206 or support@genedx.com and we will respond when we return on May 27.

Mom and son connecting with genetic experts to uncover the root cause of unexplained symptoms.

We can help get to the root cause of your child’s unexplained symptoms.

We’ve teamed up with Genome Medical, a medical practice specializing in telehealth genetic services, to help you get quicker access to genetic counselors and testing—to help uncover the answers your child needs and take the next step toward more personalized care.

80% of rare diseases have underlying genetic causes.1 Exome or genome testing could bring them to the surface.

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.2,3 Exome or genome testing is often recommended as a first step to find a diagnosis sooner—and can give you a clearer path forward.

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, genetic testing can 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 for your child, so you can:

  • Work with your doctor to create a care or treatment plan for your child’s needs
  • Connect with families that have children with the same diagnosis, so you can find support from others in similar situations
  • Search for potential clinical trials that could help with your child’s genetic condition
  • Get insurance coverage for medical equipment or therapies

Mother and child using telehealth to explore ordering an exome sequencing test through GeneDx.

We’re here to help you find clarity–right from home

Through our collaboration with Genome Medical, you can meet with a board-certified genetic counselor virtually and start the testing process from the comfort of home. The process is easy.

Here’s how it works

Get exome LP - Meet with a genetic counselor online

Meet with a genetic counselor online*
Schedule a virtual visit with a licensed, board-certified genetic counselor through Genome Medical. Most appointments are available within a week.

Get exome LP - Share your child’s health story

Share your child’s health story
During your session, you’ll walk through your child’s symptoms and medical history. Your genetic counselor will explain how testing might help uncover answers, and you can ask any questions along the way.

Get exome LP - Review testing options

Review testing options
If exome or genome testing makes sense for your child and you decide to move forward, Genome Medical will place the order for you.

Get exome LP - Swab and send

Swab and send
We’ll mail you a sample collection kit with everything you need. Just swab the inside of your child’s cheek and send the sample back to us using the pre-paid envelope. All analysis, interpretation, and reporting is done through our GeneDx lab.

Get exome LP - Get results and guidance on next steps

Get results and guidance on next steps
In just a few weeks, Genome Medical will reach out with your results. You can choose to meet with a genetic counselor again to talk through your results and receive guidance on next steps. We recommend sharing your results with your child’s care team, too.

What finding answers meant to other families

Are you a healthcare provider?

COMMON QUESTIONS

Exome and genome testing offers a deeper look into your child’s DNA, helping uncover possible genetic reasons for why their body may be growing or developing differently than expected. These tests show the most complete view of your child’s genes and can provide important answers that inform their treatment and/or care plan.

Exome testing focuses on the part of DNA that tells the body how to make proteins–where most known genetic conditions are found.

Genome testing looks at person’s DNA as a whole, offering the broadest view.

Not sure which test is right for your child? Genome Medical can help guide you based on your child’s symptoms and medical history.

You can also watch this short video to learn more about exome and genome testing.

Genome Medical is the leading provider of telehealth genetic services, delivering expert guidance, accelerating diagnoses and improving outcomes for individuals and families with rare conditions. Genome Medical’s clinical team includes experienced genetic counselors, medical geneticists, pharmacists, and other specialists who provide care across all 50 states.

The program includes two separate components, with two separate billing policies. Genetic counseling and test ordering is performed by Genome Medical, while the laboratory testing and analysis is performed by GeneDx.

Genome Medical is in network with many commercial insurers (see the list at GenomeMedical.com/insurance-coverage). Coverage and pricing may vary; please contact your insurance provider for your exact coverage and payment responsibility.

Alternatively, Genome Medical offers self-pay pricing: $250 for the initial pre-test counseling, order placement, and results summary, and an additional $250 for post-test counseling (if desired).

GeneDx accepts all commercial insurance, Medicaid, Medicare, and Tricare plans. Please contact your insurance provider for your exact coverage and payment responsibility. For situations where insurance does not cover testing, GeneDx also offers competitive self-pay pricing, interest-free payment plans and, for eligible patients, a Financial Assistance Program.

Additionally, patients with epilepsy may qualify for GeneDx’s Epilepsy Partnership Program. Through this program, if a family’s health insurance company denies their claim or if they are uninsured, our pharma partners will cover the cost of GeneDx testing. Visit GeneDx.com/partnership-program for more.

In addition, Genome Medical and GeneDx each offer financial assistance options:

Yes, at this time, this program is limited to individuals residing in the United States.

A genetic counselor is a healthcare professional trained in genetics who’s there to guide and support you. They can help you decide if testing makes sense, break down test results so they’re easy to understand, and talk you through next steps for your child’s care. Just like a doctor or geneticist, they can also order genetic tests.

Genome Medical’s genetic counselors are highly trained genetic experts, and they’re here to help determine whether exome or genome testing is the right next step for your child.

To make the most of your appointment, be ready to talk through your child’s medical history, including:

  • Symptoms, diagnoses, or conditions they’ve experienced
  • Specialists they’ve seen
  • Tests they’ve already had, including any previous genetic testing (especially if the results were negative)

Symptoms and conditions that might benefit from genetic testing include:

  • Epilepsy or seizures
  • Delays in developmental milestones (like rolling over, walking, or talking)
  • Intellectual disability
  • Birth defects or congenital anomalies (such as cleft palate or heart defects)
  • Growth issues or failure to thrive
  • Unusual muscle tone (either too low or too high)
  • Muscle or movement differences (like hypotonia, dystonia, or spasticity)
  • Cerebral palsy
  • Significant hearing or vision challenges
  • Autism spectrum disorder
  • Concerns about a metabolic or mitochondrial condition

Sharing this information helps your genetic counselor understand the full picture so they can guide you toward the best next step in your child’s care.

Absolutely. We encourage you to share your child’s results with their care team. Once your results are available, you’ll receive a summary that you can download or print to share directly with your child’s doctor to help guide their ongoing care.

Yes, your child’s doctor can order exome or genome testing directly through GeneDx. To help you start the conversation, we’ve created this guide with key information you can share with them about genetic testing and how it may help.

Genetic testing can deliver three types of results:

  • Positive or diagnostic means we found a gene change that’s known to cause symptoms or a specific genetic disorder.
  • Negative or non-diagnostic means there were no gene changes identified at the time that explain a health condition, based on current knowledge.
  • Uncertain means we found a gene change but, based on the available scientific evidence, we cannot clearly say whether this is related to a health condition.

The exact information found in an exome report will vary, although results will typically contain details like:

  • test(s) requested
  • the reason your genetic counselor ordered testing
  • results and description
  • any gene changes identified that may have a role in disease
  • a summary of the findings
    guidance for next steps

*If available in your state

References: 1. Bavisetty S, et al. Emergence of pediatric rare diseases: Review of present policies and opportunities for improvement. Rare Dis. 2013;1:e23579. doi: 10.4161/rdis.23579. eCollecion 2013. 2. Manickam K, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242. 3. Smith L, et al. J Genet Couns. 2022 Oct 24. Doi.org/10.1002/jgc4.1646.