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Int. J. Mol. Sci. 2016, 17(12), 2070; doi:10.3390/ijms17122070

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

1
Lineagen, Inc., Salt Lake City, UT 84109, USA
2
Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA
3
Departments of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, UT 66160, USA
*
Author to whom correspondence should be addressed.
Academic Editor: Michele Fornaro
Received: 15 October 2016 / Revised: 29 November 2016 / Accepted: 4 December 2016 / Published: 9 December 2016
View Full-Text   |   Download PDF [1373 KB, uploaded 9 December 2016]   |  

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. View Full-Text
Keywords: chromosomal microarray; copy number variants; neurodevelopmental disorders; autism spectrum disorder; variants of unknown significance; FirstStepDx PLUS chromosomal microarray; copy number variants; neurodevelopmental disorders; autism spectrum disorder; variants of unknown significance; FirstStepDx PLUS
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Ho, K.S.; Wassman, E.R.; Baxter, A.L.; Hensel, C.H.; Martin, M.M.; Prasad, A.; Twede, H.; Vanzo, R.J.; Butler, M.G. Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. Int. J. Mol. Sci. 2016, 17, 2070.

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