Clinical utility of single nucleotide polymorphism arrays

Abstract

Detection of chromosomal abnormalities has evolved over the past 30 years. Microarray analysis allows for the detection of abnormalities at a level of resolution 100 times greater than chromosomal analysis. In this article, one specific array, a single nucleotide polymorphism array, is reviewed. This array not only allows for increased resolution to detect copy number changes, but the genotyping aspect of the array allows copy neutral detection (for both uniparental disomy and consanguinity). Additionally, use of this array in constitutional postnatal, prenatal, and products of conception studies is reviewed along with the use of the array in oncology studies.