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Updated: May 25, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey
Amelia R Mroch1, Jason D Flanagan, Quinn P Stein
1Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.
Abstract:
We review 3 cases where array comparative genomic hybridization made a difference in the medical management of the patient, ended the diagnostic odyssey, predicted prognosis for the patient, and/or provided closure to the family. Comparative genomic hybridization is a useful tool for testing individuals with clinical examinations suggestive of a genetic syndrome but in which a specific syndrome may be difficult to pinpoint. The cost is similar to that of a standard karyotype but there is a higher yield in children and adults with clinical signs of a genetic syndrome.
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