Patient Resources
Here you'll find what genetic testing involves, what a result may mean for your relatives, and the organizations that can help.
Genetic testing and your family
Because PRKAG2 syndrome is inherited, a PRKAG2 variant in your family can affect more than one person. If someone in your family has a known variant, close relatives may want to talk with a doctor or a genetic counselor about whether testing and follow-up care make sense for them.
The Corventis trial isn’t a substitute for genetic counseling, but if someone in your family is being considered for Corventis, the study team may be able to direct you toward genetic counseling resources and support organizations.
If you're thinking about genetic testing, here are a few practical next steps to consider:
Ask your doctor about a referral to a genetic counselor. Telehealth options may be available, so you may be able to meet from home.
Gather what you can about your family history, including any past cardiac events, heart device history, and prior genetic test results. This background helps your doctor or genetic counselor give you the most useful guidance.
Understand your options. A genetic counselor can talk through the options so you can determine what testing or follow-up care is right for you.
Ask about privacy. Your doctor or genetic counselor can explain the protections in place for your genetic information.
General information about genetic testing
Genetic testing looks at your DNA to find specific changes, called variants, that can be linked to a condition like PRKAG2 syndrome. Because the syndrome is passed down through families, knowing whether you carry a variant can help you and your doctors make more informed decisions about your heart health and follow-up care.
Testing usually starts with a conversation with a genetic counselor, who will walk you through what a test can and can’t tell you before anything is done. If you decide to move forward, a sample — often saliva or blood — is sent to a lab, and results typically take a few weeks. Your counselor or doctor then helps you understand what the results mean for you and for your relatives.
Choosing whether to be tested is a personal decision, and there’s no single right answer. A genetic counselor can help you weigh what’s right for your situation, including how results might affect family members who may share the same variant.
Support beyond the clinical study
Patient advocacy organizations
