Open AccessAnalytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions
Author(s) -
Charles H. Hensel,
Rena Vanzo,
Megan Martin,
Sean Dixon,
Christophe G Lambert,
Brynn Levy,
Lesa Nelson,
Andy Peiffer,
Karen S. Ho,
Patricia Rushton,
Moises A. Serrano,
Sarah T. South,
Kenneth Ward,
E. Robert Wassman
Publication year - 2017
Publication title -
plos currents
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.282
H-Index - 49
ISSN - 2157-3999
DOI - 10.1371/currents.eogt.7d92ce775800ef3fbc72e3840fb1bc22
Subject(s) - autism , buccal swab , microarray , medicine , copy number variation , blood sampling , population , dna microarray , intellectual disability , computational biology , microarray analysis techniques , sampling (signal processing) , bioinformatics , genetics , genome , biology , gene , computer science , psychiatry , gene expression , environmental health , filter (signal processing) , computer vision
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.