Diagnostic Criteria

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In 2021, the International Tuberous Sclerosis Complex Consensus Group reviewed prevalence and specificity of TSC-associated clinical manifestations and updated the TSC diagnostic criteria published in 2013.

The clinical and genetic diagnostic criteria of 2021 are summarised below.

You can get a printable pdf of both the diagnostic criteria and the surveillance and management guidelines by clicking here.

Understanding TSC

New or Suspected Diagnosis
Diagnostic Criteria
Genetics and TSC
Signs, Symptoms and Treatments
Surveillance and Screening

Clinical Criteria

Definite Diagnosis*:

A definite diagnosis of TSC (Tuberous Sclerosis Complex) will be made when an individual has either:

  • 2 major features;


  • 1 major feature with 2 minor features.

Possible Diagnosis:

A possible diagnosis of TSC (Tuberous Sclerosis Complex) will be made when an individual has either: 

  • 1 major feature;  


  • 1 major and 1 minor feature; or more than 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.

Major Features

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Hypomelanotic macules (3 or more at least 5 mm diameter)

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Ungual fibromas (2 or more)

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Multiple cortical tubers and/or radial migration lines (incl. tubers and cerebral white matter radial migration lines)


Angiomyolipomas (2 or more)*

Minor Features

Note: blue hyperlinks show where further information is available on this website.

Dental enamel pits (more than 3)

Intraoral fibromas (2 or more)

Non-renal hamartomas

Retinal achromic patch

Sclerotic bone lesions

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 are well established as disease-causing and as sufficient to make a Definite Diagnosis of TSC. Other variants should be considered with caution.

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