Probably Genetic

Probably Genetic is a genetic testing service for people with unexplained symptoms or suspected rare genetic diseases. Patients or caregivers complete an online health and diagnostic assessment to determine eligibility, after which a clinical-grade kit is mailed to the home for saliva or cheek swab collection. Results are reviewed in a physician-ordered process with a genetic counseling appointment, and the lab is CLIA-certified and CAP-accredited. The platform also works with patient advocacy organizations, clinical labs, and drug developers to expand access to counseling and testing and to support research.

The service uses AI and genetic expertise alongside its assessment and testing workflow, with data protected through end-to-end encryption, HIPAA-aligned safeguards, and access controls. Active programs include insurance-billed testing and condition-specific free testing for Alpha-mannosidosis, cerebrotendinous xanthomatosis (CTX), GRN FTD, and Syngap 1. Eligibility is determined through the online assessment, with notifications sent by email and in the patient profile. Free testing programs have limited availability per condition; patients suspected of a genetic condition may also pursue an insurance-billed pathway through a remote genetic counselor, billed to insurance when in-network or covered by Probably Genetic when out of network.