Cytogenomics Lab | The Children's Hospital of Philadelphia

CytoGenomics Laboratory


The mission of the Children’s Hospital of Philadelphia CytoGenomics laboratory is to diagnose genomic copy number alterations leading to human disease with the highest possible accuracy.

The CytoGenomics laboratory uses a Genome-wide SNP array to identify genomic alterations associated with a wide variety of pediatric 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 validated analysis is targeted to detect alterations larger than 200 kb in general, with special focus on over 400 known dosage sensitive genes. We are able to diagnose smaller alterations that affect known dosage sensitive genes. We can diagnose numerous single gene disorders, both dominant and recessive, as well as cases of uniparental disomy. In addition, we can detect mosaicism as low as 5 to 20% (varying with the meiotic or mitotic origin of the mosaicism). We can also determine parent of origin for deletions and uniparental disomy. The laboratory also offers a complete menu of cytogenetic and FISH tests (commercially available and custom probes) for postnatal analysis. Tests include:

What makes us unique is our utilization of state of the art technology to diagnose genomic alterations. Our laboratory is a partnership between 3 groups at The Children’s Hospital of Philadelphia, with world-class expertise in genotyping (Center for Applied Genetics), bioinformatics (CHOP Bioinformatics Core) and cytogenomics (Clinical CytoGenomics group). The CytoGenomics lab is able to provide in depth, manual genome-wide microarray analysis and interpretation of results on a case-to-case basis. We utilize novel bioinformatic algorithms along with visual inspection of all data to ensure the highest quality analysis possible. The utilization of custom FISH probes allows us to validate small, but clinically significant alterations (<100 kb). The methodologies we have developed and employ allow us to detect and report some single gene deletions involved in both dominant and recessive disorders, as well as low level mosaicism that is currently not possible by most contemporary microarray analysis practices.


Location and Hours

1106 Abramson Research Center

Hours of Operation

Monday-Friday 9 a.m. - 5:30 p.m.

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