title: Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.
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.
authors.affiliation: Lineagen, Inc., Salt Lake City, UT, USA; Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
authors.forename: Karen S
authors.initials: KS
authors.lastname: Ho
authors.affiliation: Lineagen, Inc., Salt Lake City, UT, USA.
authors.forename: Hope
authors.initials: H
authors.lastname: Twede
authors.affiliation: Lineagen, Inc., Salt Lake City, UT, USA.
authors.forename: Rena
authors.initials: R
authors.lastname: Vanzo
authors.affiliation: Lineagen, Inc., Salt Lake City, UT, USA.
authors.forename: Erin
authors.initials: E
authors.lastname: Harward
authors.affiliation: Lineagen, Inc., Salt Lake City, UT, USA.
authors.forename: Charles H
authors.initials: CH
authors.lastname: Hensel
authors.affiliation: Lineagen, Inc., Salt Lake City, UT, USA.
authors.forename: Megan M
authors.initials: MM
authors.lastname: Martin
authors.affiliation: Lineagen, Inc., Salt Lake City, UT, USA.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Page
authors.affiliation: Lineagen, Inc., Salt Lake City, UT, USA; Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
authors.forename: Andreas
authors.initials: A
authors.lastname: Peiffer
authors.affiliation: Lineagen, Inc., Salt Lake City, UT, USA.
authors.forename: Patricia
authors.initials: P
authors.lastname: Mowery-Rushton
authors.affiliation: Lineagen, Inc., Salt Lake City, UT, USA.
authors.forename: Moises
authors.initials: M
authors.lastname: Serrano
authors.affiliation: Lineagen, Inc., Salt Lake City, UT, USA.
authors.forename: E Robert
authors.identifier: 0000-0001-6729-1138
authors.initials: ER
authors.lastname: Wassman
mesh_terms: D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002875:Chromosomes; D002877:Chromosomes, Human; D019411:Clinical Laboratory Techniques; D015331:Cohort Studies; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D018628:Gene Dosage; D014644:Genetic Variation; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D007621:Karyotyping / Q000379:methods*; D008297:Male; D065886:Neurodevelopmental Disorders / Q000175:diagnosis* / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D055815:Young Adult