Probably Genetic Program - No-Cost Genetic Testing

Probably Genetic Program: No-Cost Genetic Testing for Pediatric Epilepsy

Geographic Scope: United States only

Focus Areas:

• Genetic testing for pediatric epilepsy and seizure disorders
• Diagnostic support for developmental delay-related disorders
• Lafora Disease identification and diagnosis

Eligibility:

• Caregivers of pediatric epilepsy patients
• Individuals experiencing seizure or developmental delay-related disorders
• U.S. residents only
• Must complete symptom checker and qualify based on submission

What They Provide:

• No-cost genetic testing (completely free to families)
• Saliva kit mailed to home address
• Prepaid return shipping or USPS pickup option
• Testing for pathogenic, likely pathogenic, and variants of uncertain significance
• Results reported even if mutations found aren't related to seizure disorders
• Patient portal for accessing results
• Option to share results with physicians at patient's request

Data Privacy & Security:

• Probably Genetic is custodian of all patient data
• Strict HIPAA compliance
• CLIA and CAP accredited testing pipeline
• De-identified data may be shared with advocacy groups and biotech companies
• No identifiable patient information shared with third parties without explicit consent
• Patient data helps advance understanding of rare disease patient experience

Important Notes:

• Not a clinical trial - does not test therapies or conduct research
• De-identified learnings may help advocacy groups and biotech companies understand patient experiences
• Partnership between Probably Genetic and Chelsea's Hope

About Probably Genetic Organization:

• Group of patients, geneticists, and engineers focused on making genetic testing more accessible
• Partners with patient advocacy groups and biotech companies
• Mission to end the diagnostic odyssey for rare disease patients

How to Apply

1. Complete the Probably Genetic Symptom Checker - Access online at Probably Genetic's platform
   • Symptom checker specifically designed for pediatric seizure conditions
   • Brief, patient and family-friendly questions
   • Assesses eligibility based on documented symptoms
2. Eligibility Notification
   • Individuals who qualify receive notification via email
3. Receive Testing Kit
   • Saliva kit is mailed to home address
4. Complete Saliva Sample
   • Simple saliva sample collection at home
5. Return Sample
   • Option 1: Use prepaid shipping box to return by mail
   • Option 2: Schedule USPS pickup from home (support team can arrange)
6. Receive Results
   • Access results via unique patient portal
   • Option to share results with physicians by explicit request

Required Materials:

• Completion of symptom checker
• Saliva sample

Support Available:

• Support team available to help with questions
• Assistance with scheduling USPS pickup if needed