1. Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders
- Author
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Moises A. Serrano, Rena Vanzo, Karen S. Ho, Megan M. Martin, Hope Twede, E. Robert Wassman, Patricia Mowery-Rushton, Stephanie Page, Erin Harward, Andreas Peiffer, and Charles H. Hensel
- Subjects
0301 basic medicine ,Male ,Pediatrics ,medicine.medical_specialty ,Article Subject ,Microarray ,Adolescent ,Autism Spectrum Disorder ,Developmental Disabilities ,Gene Dosage ,lcsh:Medicine ,General Biochemistry, Genetics and Molecular Biology ,Chromosomes ,Cohort Studies ,03 medical and health sciences ,Young Adult ,Intellectual Disability ,Intellectual disability ,mental disorders ,medicine ,Chromosomes, Human ,Humans ,Copy-number variation ,Child ,Oligonucleotide Array Sequence Analysis ,Chromosome Aberrations ,General Immunology and Microbiology ,business.industry ,Clinical Laboratory Techniques ,lcsh:R ,Genetic Variation ,General Medicine ,medicine.disease ,030104 developmental biology ,Ultrahigh resolution ,Autism spectrum disorder ,Neurodevelopmental Disorders ,Child, Preschool ,Karyotyping ,Cohort ,Etiology ,Female ,business ,Cohort study ,Research Article - Abstract
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.
- Published
- 2016