Tuberous Sclerosis Complex Report
Tuberous Sclerosis Complex
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by the onset of benign tumors in multiple anatomical sites. These neoformations include a large variety of tumor forms, which can be associated with neurological manifestations including epilepsy, autistic forms, difficulties in language and behavioral alterations. Tuberous sclerosis is divided into types 1 and 2, respectively caused by mutations in the TSC1 (10 to 30% of cases) and TSC2 (the majority of cases) genes.
2 genes analyzed
It is recommended if:
Genetic testing can confirm the diagnosis of Tuberous Sclerosis and is useful for identifying specific mutations.
List of main conditions:
- Tuberous sclerosis-1
- Tuberous sclerosis-2
Simple workflow
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