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Chromosomal Microarray Testing

In Patients with Development Delay, Autism or other Congenital Anomalies



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History of Cytogenetic Testing

Slide 2

September 2011

G-banded chromosome studies have been the workhorse of cytogenetics laboratories for over 40 years. The major advantage of this technique is that it presents a picture of the entire genome in a single assay. However, the major disadvantage of this technique is that it is very subjective and has a relatively low resolution such that deletions or duplications of genomic material below approximately 5 million base pairs or 5 megabases are generally not visible. Chromosome studies detect a rearrangement in approximately 4% of patients with developmental delay, autism, or multiple congenital anomalies.

History of Cytogenetic Testing

 


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