[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
Record ID 32014000246
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' recommendations: 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.
Project Status: Completed
Year Published: 2013
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Argentina
MeSH Terms
  • Humans
  • Intellectual Disability
  • Chromosomes, Human
  • Oligonucleotide Array Sequence Analysis
  • Child Development Disorders, Pervasive
  • Attention Deficit Disorder with Hyperactivity
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.