Searching for a diagnosis is exhausting. You just want answers.
GeneDx’s exome testing can help you get there.
Learn how exome sequencing helped Carlotta and her family reach a diagnosis.
Speak with your pediatrician, specialist, or a geneticist today about exome testing. They can place the order for you and guide you through the results. If you’re ready for answers, it’s time to talk to your doctor about exome testing.
On the journey to finding a genetic cause for your/your child’s health concerns, providers might order tests like chromosomal microarray or single-gene tests first. The problem? Not all genetic tests are created equal.
These genetic tests are focused and limited in what they can find, while exome testing is broad and looks at over 20,000 genes.
This comprehensive view can help:
Even if you/your child already received negative results from a more limited genetic test or were diagnosed based on clinical symptoms, exome testing could unlock answers and provide a definitive diagnosis.
In fact, research shows that nearly 1 in 4 patients diagnosed via exome testing would not have received a diagnosis with a more limited genetic test.1
Sharing your story can make a positive and lasting impact, serving as a beacon of support and inspiration for other patients and families.
XMy youngest child, Estella, was diagnosed at eight months old with an ultra-rare neurological disease called alternating hemiplegia of childhood. The power of a genetic diagnosis brought more than answers to my family; it brought a sliver of hope and potential for the future.”
XCarlotta was undiagnosed for 18 months until we were finally able to access whole exome sequencing to identify the underlying cause of her issues: PIGN-CDG.
While it doesn’t necessarily change her immediate prognosis, it does change what the long-term prognosis could be. We wouldn’t have options if we didn’t understand what exactly it was that we were dealing with.”
COMMON QUESTIONS
Many commercial payers have coverage for exome testing when criteria are met.2
A blood sample or cheek swab is all it takes. If possible, samples from both biological parents (in addition to the patient) can increase the chance that we find an answer.
At GeneDx, we firmly believe that everyone deserves access to vital insights from genetic testing, regardless of their financial situation. We offer a robust Financial Assistance Program to help reduce the potential out-of-pocket costs associated with testing.
Test results are typically sent to your ordering provider within 6 weeks of our lab receiving the blood or cheek swab sample. We also offer rapid testing options, which can deliver verbal results in as little as 7 days.
Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.
