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DIAGNOSTIC CRITERIA

In 2012, the International Tuberous Sclerosis Complex 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 Criteria

The identification of either a TSC1 or TSC2 pathogenic mutation in DNA from normal tissue is sufficient to make a Definite Diagnosis of TSC.  A pathogenic mutation is defined as a mutation that clearly inactivates the function of the TSC1 or TSC2 proteins (e.g., out of frame insertion or deletion or nonsense mutation), prevents protein synthesis (e.g., large genomic deletion), or is a missense mutation whose effect on protein function has been established by functional assessment.  Other TSC1 or TSC2 variants whose effect on function is less certain do not meet these criteria and are not sufficient to make a Definite Diagnosis of TSC.  Note that approximately 15% of individuals with TSC have no mutation identified by conventional genetic testing, and a normal result does not exclude TSC or have any effect on the use of Clinical Diagnostic Criteria to diagnose TSC.

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


 
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