title: Application of DNA Microarray to Clinical Diagnostics.
abstract: Microarray-based technology to conduct array comparative genomic hybridization (aCGH) has made a significant impact on the diagnosis of human genetic diseases. Such diagnoses, previously undetectable by traditional G-banding chromosome analysis, are now achieved by identifying genomic copy number variants (CNVs) using the microarray. Not only can hundreds of well-characterized genetic syndromes be detected in a single assay, but new genomic disorders and disease-causing genes can also be discovered through the utilization of aCGH technology. Although other platforms such as single nucleotide polymorphism (SNP) arrays can be used for detecting CNVs, in this chapter we focus on describing the methods for performing aCGH using Agilent oligonucleotide arrays for both prenatal (e.g., amniotic fluid and chorionic villus sample) and postnatal samples (e.g., blood).
authors.affiliation: Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.affiliation: Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. scheung@bcm.edu.
authors.forename: Sau W
authors.initials: SW
authors.lastname: Cheung
mesh_terms: D000653:Amniotic Fluid / Q000737:chemistry; D002824:Chorionic Villi / Q000737:chemistry; D004247:DNA / Q000097:blood / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification; D003933:Diagnosis; D005260:Female; D005456:Fluorescent Dyes / Q000737:chemistry; D023281:Genomics; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*
chemical_list: D005456:Fluorescent Dyes; D004247:DNA
keywords: Array comparative genomic hybridization (aCGH ); Chromosomal microarray analysis (CMA ); Clinical utility; Copy number variation (CNV ); Prenatal diagnosis