What are the limitations of Cytogenetic Microarray testing?
Balanced chromosomal rearrangements and mosaic chromosomal imbalances may cause developmental disabilities and dysmorphic features or congenital abnormalities in patients. These changes often cannot be detected using microarray. For this reason, it is recommended that a physician order chromosome analysis prior to ordering microarray testing. At Cincinnati Children’s, you can order both tests at the same time, and we will start microarray testing if chromosome analysis is normal (reflex testing as listed on requisition). Genetic conditions may be caused by not only DNA imbalances, but also by point mutations or other genetic changes. If a specific genetic diagnosis is suspected, please contact the laboratory for additional testing that may be recommended. Microarray technology may identify copy number variants or polymorphisms that are common in the general population, and these may not be associated with your patient’s features. Testing of biological parents may be requested to aid wi
