title: Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.
abstract: BACKGROUND
  Chromosomal microarray analysis (CMA) is recognized as the first-tier test in the genetic evaluation of children with developmental delays, intellectual disabilities, congenital anomalies and autism spectrum disorders of unknown etiology.
  To optimize detection of clinically relevant copy number variants associated with these conditions, we designed a whole-genome microarray, FirstStepDxPLUS (FSDX). A set of 88,435 custom probes was added to the Affymetrix CytoScanHD platform targeting genomic regions strongly associated with these conditions. This combination of 2,784,985 total probes results in the highest probe coverage and clinical yield for these disorders.
  
  
  CONCLUSIONS
  Clinical testing of this patient population is validated on DNA from either non-invasive buccal swabs or traditional blood samples. In this report we provide data demonstrating the analytic and clinical validity of FSDX and provide an overview of results from the first 7,570 consecutive patients tested clinically. We further demonstrate that buccal sampling is an effective method of obtaining DNA samples, which may provide improved results compared to traditional blood sampling for patients with neurodevelopmental disorders who exhibit somatic mosaicism.
authors.affiliation: Lineagen, Inc., Salt Lake City, Utah, USA.
authors.forename: Charles
authors.initials: C
authors.lastname: Hensel
authors.affiliation: Clinical Genetic Services, Lineagen, Inc., Salt Lake City, Utah, USA.
authors.forename: Rena
authors.initials: R
authors.lastname: Vanzo
authors.affiliation: Lineagen, Inc., Salt Lake City, Utah, USA.
authors.forename: Megan
authors.initials: M
authors.lastname: Martin
authors.affiliation: Operations, Lineagen, Inc., Salt Lake City, Utah, USA.
authors.forename: Sean
authors.initials: S
authors.lastname: Dixon
authors.affiliation: Department of Internal Medicine, Center for Global Health, Division of Translational Informatics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.
authors.forename: Christophe
authors.initials: C
authors.lastname: Lambert
authors.affiliation: Department of Pathology & Cell Biology, Columbia University Medical Center, New York, New York, USA.
authors.forename: Brynn
authors.initials: B
authors.lastname: Levy
authors.affiliation: Affiliated Genetics Laboratory, Inc., Salt Lake City, Utah, USA.
authors.forename: Lesa
authors.initials: L
authors.lastname: Nelson
authors.affiliation: Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA; Lineagen, Inc., Salt Lake City, Utah, USA.
authors.forename: Andy
authors.initials: A
authors.lastname: Peiffer
authors.affiliation: Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA; Lineagen, Inc., Salt Lake City, Utah, USA.
authors.forename: Karen S
authors.initials: KS
authors.lastname: Ho
authors.affiliation: Lineagen, Inc., Salt Lake City, Utah, USA.
authors.forename: Patricia
authors.initials: P
authors.lastname: Rushton
authors.affiliation: Lineagen, Inc., Salt Lake City, Utah, USA.
authors.forename: Moises
authors.initials: M
authors.lastname: Serrano
authors.affiliation: ARUP Laboratories, Salt Lake City, Utah, USA; 23andMe, Inc., Mountain View, California, USA.
authors.forename: Sarah
authors.initials: S
authors.lastname: South
authors.affiliation: Affiliated Genetics Laboratory, Inc., Salt Lake City, Utah, USA.
authors.forename: Kenneth
authors.initials: K
authors.lastname: Ward
authors.affiliation: Lineagen, Inc., Salt Lake City, Utah, USA.
authors.forename: Edward
authors.initials: E
authors.lastname: Wassman