Tuberous sclerosis laboratory findings

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Tuberous sclerosis Microchapters


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]


Molecular genetic testing is commercially available for tuberous sclerosis.

Laboratory Findings

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. If a case meets the clinical diagnostic criteria, then it is performed a genetic molecular testing which is seem mostly as corroborative.[1]

There are no typical diagnostic laboratory findings associated with tuberous sclerosis. Patients may present with elevated BUN or creatinine if their renal angiomyolipomas compromise renal function or if they also present with autosomal dominant polycystic kidney disease.


  1. Crino PB, Nathanson KL, Henske EP (September 2006). "The tuberous sclerosis complex". The New England Journal of Medicine. 355 (13): 1345–56. doi:10.1056/NEJMra055323. PMID 17005952.