Clinical Genetic Testing for Patients With Autism Spectrum Disorders

2010393 citationsJournal Articlegreen Open Access

Authors

Yiping Shen · Center for Human Genetics

Kira A. Dies · Autism Consortium

Ingrid A. Holm · Autism Consortium

Carolyn Bridgemohan · Autism Consortium

Magdi M. Sobeih · Autism Consortium

Elizabeth Caronna · Autism Consortium

Karen J. Miller ·

Abstract

CMA had the highest detection rate among clinically available genetic tests for patients with ASD. Interpretation of microarray data is complicated by the presence of both novel and recurrent copy-number variants of unknown significance. Despite these limitations, CMA should be considered as part of the initial diagnostic evaluation of patients with ASD.

Topics & Keywords

Genomic variations and chromosomal abnormalities Autism Spectrum Disorder Research Genetics and Neurodevelopmental Disorders

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: PEDIATRICS

Volume 125, Issue 4, pp. e727-e735

DOI: 10.1542/peds.2009-1684

Field-Weighted Citation Impact: 27.44