NDLI: Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

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Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

Content Provider	MDPI
Author	Ho, Karen Wassman, E. Baxter, Adrianne Hensel, Charles Martin, Megan Prasad, Aparna Twede, Hope Vanzo, Rena Butler, Merlin
Abstract	Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and other related conditions. In recognition of the value of CMA testing and its impact on medical management, CMA is in medical guidelines as a first-tier test in the evaluation of children with these disorders. As CMA becomes adopted into routine care for these patients, it becomes increasingly important to report these clinical findings. This study summarizes the results of over 4 years of CMA testing by a CLIA-certified clinical testing laboratory. Using a 2.8 million probe microarray optimized for the detection of CNVs associated with neurodevelopmental disorders, we report an overall CNV detection rate of 28.1% in 10,351 consecutive patients, which rises to nearly 33% in cases without ASD, with only developmental delay/intellectual disability (DD/ID) and/or multiple congenital anomalies (MCA). The overall detection rate for individuals with ASD is also significant at 24.4%. The detection rate and pathogenic yield of CMA vary significantly with the indications for testing, age, and gender, as well as the specialty of the ordering doctor. We note discrete differences in the most common recurrent CNVs found in individuals with or without a diagnosis of ASD.
File Size	1405952
File Format	PDF
e-ISSN	14220067
DOI	10.3390/ijms17122070
Journal	International Journal of Molecular Sciences
Issue Number	12
Volume Number	17
Language	English
Publisher Date	2016-12-09
Access Restriction	Open
Subject Keyword	chromosomal microarray copy number variants neurodevelopmental disorders autism spectrum disorder variants of unknown significance FirstStepDx PLUS
Content Type	Text
Resource Type	Article

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