Published on in CHOP News
The Cytogenomics Laboratory at CHOP utilizes a genome-wide SNP array to identify genomic alterations associated with a wide variety of disorders.
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 percent to 5 percent.
- Genome-wide SNP array (>1 million probes, wide variety of tissue sources)
- Deletion/duplication analysis
- Homozygosity mapping in consanguineous families
- Detection and confirmation of UPD
- Low-level mosaicism detection of all of the above