In 2012, the International Tuberous Sclerosis Consensus Conference reviewed prevalence and specificity of TSC-associated clinical manifestations and updated the TSC diagnostic criteria from 1998. Clinical features of TSC continue to be a principal means of diagnosis but include additional clarification and simplification. In addition, TSC may now be diagnosed via genetic testing. The new clinical and genetic diagnostic criteria of 2012 are summarised below.

1. Clinical Criteria

Definite Diagnosis:

A definite diagnosis of Tuberous Sclerosis will be made when an individual has either: 2 major features; or 1 major feature with 2 minor features.

A combination of the two major clinical features Lymphangioleiomyomatosis (LAM) and Angiomyolipomas without other features does not meet criteria for a Definite Diagnosis.

Possible Diagnosis:

A possible diagnosis of Tuberous Sclerosis will be made when an individual has either: 1 major feature; or 1 major and 1 minor feature; or more than 2 minor features.

Major Features

Minor Features

2. Genetic Testing Criteria

  • Either a TSC1 or TSC2 pathogenic mutation is sufficient to make a Definite Diagnosis of TSC. A pathogenic mutation is defined as a sequence variant that clearly prevents TSC1 or TSC2 protein production. Additionally, some mutations compatible with protein production (e.g., some missense changes) are well established as disease-causing and as sufficient to make a Definite Diagnosis of TSC. Other variants should be considered with caution.