This is a specialized branch of genetics dealing with the behavior and relationship of the chromosomes in determining cell behavior. Cytogenetic diagnostics helps determine the abnormalities at the chromosomal level which then translates into abnormalities at the cellular and organism level. The abnormalities are specific to the individual and helps doctors understand the exact cause and nature of a disorder.

The analysis of chromosomes is a labor-intensive method requiring cell culture and distinguishing of cell divisions. Cytogenetics have become a very important tool in the field of obstetrics and gynecology, and have applications in a wide variety of other fields.