[Complete exome sequencing in epileptic encephalopathy]
Gonzalez L, Pichon-Riviere A, Augustovski F, García Martí S, Alcaraz A, Bardach A, Ciapponi A.
Record ID 32018001414
Original Title: Secuenciación completa del exoma en encefalopatía epiléptica
Authors' recommendations: CONCLUSIONS In patients with epileptic encephalopathy, the evidence found does not allow determining the impact of genetic diagnosis with complete exome sequencing on clinical management. Moderate-quality evidence indicates that the diagnostic yield of the test would be less than 30%. No studies comparing this technology with other genetic tests have been found. In the United States, the American College of Medical Genetics and Genomics and the private insurance companies Anthem and Cigna mention its use in view of suspected defined syndrome with high genetic heterogeneity for which the use of a test targeted to a single gene or a specific panel would not be convenient, and the results, both positive or negative, would affect management.
Project Status: Completed
Year Published: 2017
URL for published report: https://www.iecs.org.ar/home-ets/
English language abstract: An English language summary is available
Publication Type: Not Assigned
- Exome Sequencing
- Genetic Markers
- Genetic Predisposition to Disease
Organisation Name: Institute for Clinical Effectiveness and Health Policy
Contact Address: Dr. Emilio Ravignani 2024, Buenos Aires - Argentina, C1414 CABA
Contact Name: firstname.lastname@example.org
Contact Email: email@example.com
Copyright: Institute for Clinical Effectiveness and Health Policy (IECS)
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