Chromosome Analysis

Chromosome analysis (karyotyping) is the microscopic eveluation of metaphase chromosomes for numerical and structural abnormalities associated with disease. The chromosomes are banded using enzymes (trypsin or pancreatin) and stain (Giemsa, Wright's, etc.) to produce G-bands. G-bands create a unique light and dark banding pattern on each chromosome. A cytogenetic technologist views the banded chromosomes at a microscope. Typically, twenty metaphase cells which contain the chromosomes are viewed at the microscope. Photographic images of a few representative cells are captured and the chromosomes contained in these cells are arranged in a standard format known as a karyogram. The karyograms along with the patient's history are reviewed by a board-certified clinical cytogeneticist. Results are reported to physicians using the International System for Human Cytogenetic Nomenclature 2009 (ISCN 2009).