Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders

被引:14
作者
Ho, Karen S. [1 ,2 ]
Twede, Hope [1 ]
Vanzo, Rena [1 ]
Harward, Erin [1 ]
Hensel, Charles H. [1 ]
Martin, Megan M. [1 ]
Page, Stephanie [1 ]
Peiffer, Andreas [1 ,2 ]
Mowery-Rushton, Patricia [1 ]
Serrano, Moises [1 ]
Wassman, E. Robert [1 ]
机构
[1] Lineagen Inc, Salt Lake City, UT 84109 USA
[2] Univ Utah, Dept Pediat, Salt Lake City, UT USA
关键词
COPY-NUMBER VARIATION; AUTISM SPECTRUM DISORDERS; DEVELOPMENTAL-DISABILITIES; INTELLECTUAL DISABILITY; MENTAL-RETARDATION; DIAGNOSTIC-TEST; CHILDREN; UTILITY; INDIVIDUALS; MANAGEMENT;
D O I
10.1155/2016/3284534
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Copy number variants (CNVs) as detected by chromosomal microarray analysis (CMA) significantly contribute to the etiology of neurodevelopmental disorders, such as developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD). This study summarizes the results of 3.5 years of CMA testing by a CLIA-certified clinical testing laboratory 5487 patients with neurodevelopmental conditions were clinically evaluated for rare copy number variants using a 2.8-million probe custom CMA optimized for the detection of CNVs associated with neurodevelopmental disorders. We report an overall detection rate of 29.4% in our neurodevelopmental cohort, which rises to nearly 33% when cases with DD/ID and/or MCA only are considered. The detection rate for the ASD cohort is also significant, at 25%. Additionally, we find that detection rate and pathogenic yield of CMA vary significantly depending on the primary indications for testing, the age of the individuals tested, and the specialty of the ordering doctor. We also report a significant difference between the detection rate on the ultrahigh resolution optimized array in comparison to the array from which it originated. This increase in detection can significantly contribute to the efficient and effective medical management of neurodevelopmental conditions in the clinic.
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页数:7
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