Tuberous sclerosis laboratory findings

Tuberous sclerosis Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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Overview

Molecular genetic testing is commercially available in the United States for the diagnosis of tuberous sclerosis. Genetic testing identifies mutations only in 75% - 80%. The 15%-20% failure rate is thought to be due to somatic mosaicism. Therefore a negative genetic test does not rule out the diagnosis of tuberous sclerosis.