Mutational screening of notch3 gene in the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy (CADASIL)
Oubiña M, García Martí S, Pichon-Riviere A, Augustovski F, Alcaraz A, Bardach A, Ciapponi A, López A, Rey-Ares L
Record ID 32016000915
Spanish
Authors' recommendations:
The evidence on mutational screening of Notch3 gene in the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy is of low quality. There is no evidence that the definitive diagnosis implies a benefit for the patient's treatment.
Some health sponsors consider it experimental, whereas others cover it in those cases where clinical signs and family history are consistent; the standard diagnostic methods are not conclusive and the genetic diagnosis is medically necessary.
Details
Project Status:
Completed
Year Published:
2016
URL for published report:
www.iecs.org.ar/home-ets/
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
Argentina
MeSH Terms
- Humans
- CADASIL
- Mutation
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.