Exome testing can unlock better care, sooner

Exome testing offers a broader look at your child’s DNA, helping uncover possible genetic reasons for why their body may be growing or developing differently than expected. This test shows one of the most complete views of your child’s genes and can provide important answers that inform their treatment and/or care plan.

Yes, exome testing can often find answers that other tests miss. If a panel had been selected, 23% of ES-diagnosed patients would not have received a diagnosis¹.  Multi-gene panels and chromosomal microarrays don’t capture the full picture². If you still don’t have answers, exome testing may be the next best step.

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.

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 is right for your child, break down test results so they’re easy to understand, and talk you through the next steps for your child’s care. Just like a doctor or geneticist, they can also order genetic tests. Learn more here.

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

No, GeneDx exome testing is not limited to those in the United States, however, services through Genome Medical are.

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

1. 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).
2. 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 maycover the cost of GeneDx testing. Visit GeneDx.com/partnership-program for more.

Genome Medical and GeneDx each offer financial assistance options:
1. To learn more about Genome Medical’s Financial Assistance program, visit GenomeMedical.com/individuals/financial-assistance-program
2. To learn more about GeneDx’s Financial Assistance program, visit GeneDx.com/financial-assistance-program

Your genetic test results will fall into one of four categories, each offering different types of information about your health. Understanding what each category means can help you and your provider decide on next steps.

- Positive or diagnostic means a gene change has been identified that is known to cause symptoms or a specific genetic disorder

- Negative means there were no gene changes identified at the time of testing that explain a health condition, based on current knowledge. In this case, a provider may order follow-up testing.

- Variant of uncertain significance (VUS) means a gene change was identified, but based on the available scientific evidence, it is not clear whether this is related to a health condition. In this case, a provider might suggest additional evaluations or a future reanalysis of genetic information.

- Unexpected - Rarely, genetic testing may reveal that an individual is at risk for health concerns that are not related to the reason for testing but may have implications for medical management. This includes the American College of Medical Genetics and Genomics (ACMG) secondary findings, which will be included in your exome and genome testing report unless you opt out of receiving these on your consent form. Learn more in our patient guide.

Absolutely. We encourage you to share genetic testing results with providers. Once testing results are available, you’ll receive a summary that you can download or print.