Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
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 guid...
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doaj-2330efd86d5e43a294040be62ec7a2722020-11-24T21:46:01ZengMDPI AGInternational Journal of Molecular Sciences1422-00672016-12-011712207010.3390/ijms17122070ijms17122070Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental DisordersKaren S. Ho0E. Robert Wassman1Adrianne L. Baxter2Charles H. Hensel3Megan M. Martin4Aparna Prasad5Hope Twede6Rena J. Vanzo7Merlin G. Butler8Lineagen, Inc., Salt Lake City, UT 84109, USALineagen, Inc., Salt Lake City, UT 84109, USALineagen, Inc., Salt Lake City, UT 84109, USALineagen, Inc., Salt Lake City, UT 84109, USALineagen, Inc., Salt Lake City, UT 84109, USALineagen, Inc., Salt Lake City, UT 84109, USALineagen, Inc., Salt Lake City, UT 84109, USALineagen, Inc., Salt Lake City, UT 84109, USADepartments of Psychiatry, Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, UT 66160, USACopy 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.http://www.mdpi.com/1422-0067/17/12/2070chromosomal microarraycopy number variantsneurodevelopmental disordersautism spectrum disordervariants of unknown significanceFirstStepDx PLUS |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Karen S. Ho E. Robert Wassman Adrianne L. Baxter Charles H. Hensel Megan M. Martin Aparna Prasad Hope Twede Rena J. Vanzo Merlin G. Butler |
spellingShingle |
Karen S. Ho E. Robert Wassman Adrianne L. Baxter Charles H. Hensel Megan M. Martin Aparna Prasad Hope Twede Rena J. Vanzo Merlin G. Butler Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders International Journal of Molecular Sciences chromosomal microarray copy number variants neurodevelopmental disorders autism spectrum disorder variants of unknown significance FirstStepDx PLUS |
author_facet |
Karen S. Ho E. Robert Wassman Adrianne L. Baxter Charles H. Hensel Megan M. Martin Aparna Prasad Hope Twede Rena J. Vanzo Merlin G. Butler |
author_sort |
Karen S. Ho |
title |
Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders |
title_short |
Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders |
title_full |
Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders |
title_fullStr |
Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders |
title_full_unstemmed |
Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders |
title_sort |
chromosomal microarray analysis of consecutive individuals with autism spectrum disorders using an ultra-high resolution chromosomal microarray optimized for neurodevelopmental disorders |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1422-0067 |
publishDate |
2016-12-01 |
description |
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. |
topic |
chromosomal microarray copy number variants neurodevelopmental disorders autism spectrum disorder variants of unknown significance FirstStepDx PLUS |
url |
http://www.mdpi.com/1422-0067/17/12/2070 |
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