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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 |
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Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation Oubiña M, García Martí S, Pichon-Riviere A, Augustovski F, Alcaraz A, Bardach A, Ciapponi A, López A, Rey-Ares L. Mutational screening of notch3 gene in the diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukocencephalopathy (CADASIL) Buenos Aires: Institute for Clinical Effectiveness and Health Policy (IECS). Documentos de Evaluación de Tecnologías Sanitarias, Informe de Respuesta Rápida N° 468. 2016 Authors' conclusions 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.
Final publication URL www.iecs.org.ar Indexing Status Subject indexing assigned by CRD MeSH CADASIL; Humans; Mutation Language Published Spanish Country of organisation Argentina English summary An English language summary is available. Address for correspondence Institute for Clinical Effectiveness and Health Policy, Viamonte 2146 - 3 Piso, C1056ABH Ciudad de Buenos Aires, Argentina Tel: +54 11 49 66 00 82 Fax:+54 11 49 53 40 58 Email: info@iecs.org.ar AccessionNumber 32016000915 Date abstract record published 03/08/2016 |
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