While genetic testing for epilepsy is still in its infancy, genetic testing has other beneficial factors such as finding a more targeted anti-seizure medication in a shorter period of time. Other benefits of genetic testing include assistance for family planning for the patient or relatives as well as another bit of information for the patient (and specialist!) that you did not have previously. And when there is no data to be found, the slightest bit of information is everything!
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Team Channing is doing some genetic testing, and we want to share our experience in case it’s helpful for other families fighting refractory epilepsy.
So far, it’s been easy. We began with a virtual appointment with a wonderful genetic counselor at https://www.genomemedical.com/. The appointment was 30 minutes and covered Channing's and our family’s medical backgrounds. Then, an Invitae Epilepsy Panel Test that screens for 302 genes was ordered for Channing. Appointment - $175.00 We received Invitae’s buccal swab test kit in the mail, and Bishop wanted to help, so we were glad the kit came with a backup swab! We registered the kit online https://www.invitae.com/en, and we’re able to track its progress. It took about a month to get the results. Test - $250.00 Then we had our follow up appointment with the genetic counselor and learned that a Variant(s) of Uncertain Sequence (VUS) was identified. In order to learn more about any role that variant may or may not be playing, Invitae offers direct relatives 2 free tests as part of their family variant testing program, so we took them up on their offer! Now Rob and I are waiting on our Invitae tests, and we will share more as we learn more. |
Channing's genetic test results
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Sponsored, no-charge genetic testing
US and Canada Any child under the age of 8 who has had an unprovoked seizure. |
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