Diagnosis and Testing

Diagnosis and Testing for VHL

A clinical diagnosis of VHL can be made when a patient has a personal history of tumors that are characteristic of VHL. Genetic testing for the VHL gene can help confirm an patient’s clinical diagnosis or establish a diagnosis.

Individuals who are at risk for VHL should consider genetic testing so that they can begin recommended surveillance as soon as possible. Genetic testing is performed on DNA collected from a blood or saliva sample, and the analysis is conducted by a clinical testing laboratory.

VHL is a complex disease, so at-risk individuals should have a consultation with a genetics specialist, such as a genetic counselor or geneticist, before genetic testing. These healthcare providers can help you decide if and when genetic testing is right for you.

The VHL Clinic includes genetic counselors who can provide support and help patients navigate the complex nature of VHL and its in-depth surveillance recommendations.