December 20, 2012
The Cytogenomics Laboratory at The Children’s Hospital of Philadelphia utilizes a genome-wide SNP array to identify genomic alterations associated with a wide variety of disorders. This array has largely replaced standard cytogenetic analysis for most diagnoses, and is used in conjunction with cytogenetics and molecular cytogenetics whenever appropriate.
Our analysis utilizes sophisticated and customized bioinformatic tools. The use of SNP arrays allows us to map homozygosity (acquired and constitutional) to aid in recessive disease gene mapping, as well as detection and confirmation of uniparental disomy (UPD). Our detail-oriented approach allows us to detect mosaicism as low as 2% to 5%.