What are the tests for tuberous sclerosis?

Suspicion/ testing: A trained observer will often see the early skin changes of ts in early infancy. A ct scan and or other studies will often confirm the presence of "tubers", a soft fatty tissue growth that can show up in the brain and other organs. As these kids age, management is often focused on controlling seizures & monitoring the major organs for tuber emergence ( some could require removal).

Genetic mutations: Tuberous sclerosis complex is caused by mutations in the ts1 gene on chromosome 16 and the ts2 gene on chrosome 9.Only one of these has to be affected to have symptoms. Symptoms and their severity vary, even within a family. If a parent has tsc, each of his childen has a 50% chance of having it. Spontaneous mutations also occur. See http://www.Tsalliance.Org for comprehensive information.