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Microarrays cromosómicos para diagnóstico etiológico en pacientes con discapacidad intelectual/retraso del desarrollo o trastornos del espectro autista [Chromosomal microarrays for the etiologic diagnosis in patients with intellectual disability, developmental delay or autism spectrum] |
Pichon Riviere A, Augustovski F, Garcia Marti S, Alcaraz A, Glujovsky D, Lopez A, Rey-Ares L, Bardach A, Ciapponi A, Soto N |
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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 Pichon Riviere A, Augustovski F, Garcia Marti S, Alcaraz A, Glujovsky D, Lopez A, Rey-Ares L, Bardach A, Ciapponi A, Soto N. Microarrays cromosómicos para diagnóstico etiológico en pacientes con discapacidad intelectual/retraso del desarrollo o trastornos del espectro autista. [Chromosomal microarrays for the etiologic diagnosis in patients with intellectual disability, developmental delay or autism spectrum] Buenos Aires: Institute for Clinical Effectiveness and Health Policy (IECS). Informe de Respuesta Rápida N° 316. 2013 Authors' objectives To assess the evidence available on the diagnostic usefulness, safety and coverage policy related aspects on the use of chromosomal microarrays in the etiologic diagnosis of ID/DD or AST patients. Authors' conclusions The quality of evidence to consider that CMA have a higher diagnostic performance than conventional genetic tests. The evidence related to the impact of its results on clinical management and patient evolution is low quality. The potential impact of false positive results is unknown. Therefore, there is much controversy on its use in patients without dysmorphias or with highly suspected genetic etiology. Indexing Status Subject indexing assigned by CRD MeSH Attention Deficit Disorder with Hyperactivity; Child Development Disorders, Pervasive; Chromosomes, Human; Humans; Intellectual Disability; Oligonucleotide Array Sequence Analysis 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 32014000246 Date abstract record published 28/01/2014 |
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