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This Epilepsy Awareness Month, we’re shining light on the genetic causes of seizures.
November 1, 2024 • 2 min read
More than 450,000 children in the United States have been diagnosed with epilepsy. But for many of these kids, that’s just a descriptive diagnosis—not an explanation of why they have seizures. As you can imagine, it’s much harder to find the right treatments and medical care for your child when you don’t know the fundamental cause of their epilepsy.
About half of unexplained epilepsy cases (epilepsy without a clear trigger, like a head injury, stroke, or tumor) have a genetic cause.
And, in up to 80% of cases, identifying that genetic cause helps guide treatment and management.
At GeneDx, we offer in-depth genetic testing called an “exome” test. Unlike other, less comprehensive genetic tests like multi-gene panels (which may look at hundreds of genes), an exome test looks at about 20,000 genes at once. So the likelihood of getting answers about the root cause of the seizures is much greater.
That’s why the American Epilepsy Society endorsed guidelines that recommend offering exome testing as the first genetic test to all individuals with unexplained epilepsy. Learn more about exome testing here.
The first step to getting exome testing is talking to your child’s doctors. This type of testing is becoming more and more common, with many pediatric neurologists and other healthcare providers ordering testing for patients with unexplained seizures.
For some children and their families, the traditional pathway doesn’t always work, and it can be difficult to find a local doctor to order exome or genome testing. That’s why GeneDx has partnered with Genome Medical, a leading genetic counseling services company, to connect families with genetics providers who can offer access to exome testing via telehealth. Learn more here.
