No-Cost Genetic Testing for Suspected Genetic Epilepsy and/or Developmental Delay Disorders

Struggling with unexplained symptoms?

Apply for our no-cost genetic testing program below:

1. Describe the symptoms you or a loved one is experiencing.

2. Complete the rest of your profile.

3. See if you qualify - you’ll be notified via email!

The STXBP1 Foundation has partnered with Probably Genetic to make genetic testing more accessible for families who need answers.

FAQ’s about STXBP1

What is STXBP1?
STXBP1 is a rare genetic disorder caused by changes in the STXBP1 gene.

What are the common symptoms of STXBP1?

  • Seizures

  • Global Delays and/or intellectual disability

  • Speech difficulties

  • Movement disorders (ataxia or tremors)

  • Hypotonia (low muscle tone)

  • Spasticity (increased muscle tone)

  • Feeding difficulties

  • Behavior issues (repetitive behaviors or autism)

  • GI issues (constipation)

How is STXBP1 Diagnosed?
STXBP1 is diagnosed through genetic testing using:

  • Epilepsy, Neurodevelopmental or Autism/Intellectual Disability Panel

  • Whole Exome

  • Whole Genome test

  • Rarely chromosomal microarray analysis.

What are common misdiagnoses for STXBP1?

  • Epilepsy

  • Autism

  • Developmental delay / intellectual disability

Is there a treatment for STXBP1?
Treatment for STXBP1 is currently focused on symptom management and varies between individuals due to the wide range of symptoms individuals may experience. More information on treatments can be found here.

FAQ’s about Probably Genetic

What will happen with my data?
Your data will be stored on HIPAA-compliant, secure servers. Your symptom information may be used to help develop research and treatments for your condition or ones similar to yours, but no identifying information will be shared with third parties. You can also request to have your data deleted at any time.

How long does it take to hear back on my application?
You should receive an update on your application either the same day or within 3-8 weeks for those requiring a more in-depth review. You’ll be updated via email. If you have any questions about the status of your application, please contact us.

What testing is offered?
The test Probably Genetic is offering is whole exome sequencing. This test looks at your genes to see if there are any genetic changes that might explain why you're experiencing the symptoms. While it doesn’t cover your entire DNA, it covers most of the region where disease-causing genetic variants occur. We work with a professional, accredited clinical lab to conduct testing, and be sure to get you your results quickly.

Where can I go to learn more about Probably Genetic?
You can learn more here!

How much does it cost?
It’s no-cost for patients ! Probably Genetic won’t collect any payment or insurance information at any step of the process. Probably Genetic is dedicated to making testing accessible to those who need it.

How difficult is the genetic test?
It’s simple! If approved for testing, patients will receive a saliva tube and/or cheek swabs to collect a sample. A return shipping label will also be included to make returning your sample to the lab as simple as possible.