[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' recommendations:
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.