Tuberous sclerosis laboratory findings

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Tuberous sclerosis Microchapters

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Patient Information

Overview

Historical Perspective

Pathophysiology

Differentiating Tuberous sclerosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

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Echocardiography or Ultrasound

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Treatment

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Secondary Prevention

Cost-Effectiveness of Therapy

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Case #1

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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.

References