[Genetic testing in primary dystonia]

Soto N, Ciapponi A, Pichon-Riviere A, Augustovski F, García Martí S, Alcaraz A, Bardach A.
Record ID 32018001451
Spanish
Original Title: Paneles genéticos en distonías primarias
Authors' recomendations: CONCLUSIONS No evidence assessing the clinical impact on the use of genetic testing in patients with primary dystonia has been identified. Low-quality evidence suggests that the use of a 94-gene test would have a better diagnostic yield than specific gene testing guided by clinical presentation and imaging and biochemistry ancillary tests. One guideline does not mention them; another one does recommend them and a third one recommends them after regular testing yields a negative result. Only one of the consulted sponsors covers them. No cost-effectiveness or budget impact studies has been found.
Details
Project Status: Completed
Year Published: 2018
URL for published report: https://www.iecs.org.ar/home-ets/
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Argentina
MeSH Terms
  • Dystonia
  • Dystonic Disorders
  • Genetic Testing
Contact
Organisation Name: Institute for Clinical Effectiveness and Health Policy
Contact Address: Dr. Emilio Ravignani 2024, Buenos Aires - Argentina, C1414 CABA
Contact Name: info@iecs.org.ar
Contact Email: info@iecs.org.ar
Copyright: Institute for Clinical Effectiveness and Health Policy (IECS)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.