DIAGNOSTIC CRITERIA

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 summarized below.
 
Conference attendees also updated the consensus recommendations for surveillance and management of TSC.

Clinical Criteria

Genetic Testing

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.

For More Information

If you have any questions or need more information, contact:

Steve Roberds, PhD 
Chief Scientific Officer 
Tuberous Sclerosis Alliance
801 Roeder Road, Suite 750 
Silver Spring, MD  20910 
Telephone:  1-800-225-6872 or 301-562-9890 ext. 225
E-mail: sroberds@tsalliance.org