Diagnosis of Von Hippel-Lindau syndrome
Early diagnosis of VHL syndrome is preferable to allow timely management of the disorder and reduce the impact on the life expectancy. Previously, life expectancy was approximately 50 years, but this has improved significantly with the introduction of screening and early management.

Patients that have family members with the disease should be screened to detect genetic susceptibility for the syndrome. Genetic testing is very sensitive for affected families but can become more complex for new spontaneous mutations, usually due to mosaicism. Antenatal testing for early diagnosis is an option for families with a known mutation for VHL syndrome.

In order to be diagnosed and individual must have either multiple tumors characteristic of the syndrome or a family history of the syndrome and one characteristic tumor.