About Cytogenetics

Cytogenetics is the study of chromosomal structure. Under microscopic evaluation, chromosomes are counted and reviewed for numerical or structural abnormalities. These results are then used to identify and confirm the presence of genetic disorders.

 

To prepare chromosomes for evaluation, human cells are grown in cell culture medium and then stimulated to divide during the mitotic phase of the cell cycle. The cells are then harvested using a mitogen to arrest the cells at the Metaphase Stage, adding a hypotonic solution to swell the cell and spread the metaphases, and lastly applying a fixative solution to stop the cells from further dividing and swelling. The cells are then dropped on slides, stained, analyzed by a microscope and reported as a karyotype