Cytogenetic Technologists

Field Description

Cytogenetics is the specialized area of laboratory medicine involving the study of normal and abnormal chromosomes and their relationship to human development and disease. In medical practice, the study of human chromosomes is important because changes in the chromosome number and structure can lead to birth defects, mental retardation, infertility, miscarriage and cancer.

the study of chromosomes can aid in the diagnosis, prognosis and monitoring of treatment involving conditions seen by medical geneticists, pediatricians, obstetricians, gynecologists, perinatologists, hematologists, oncologists, endocrinologists, pathologists, urologists, internists and family practice physicians.

More About Cytogenetics

cytogenetic technologists analyze chromosomes using tissue cultures and slide preparations from peripheral blood, bone marrow, amniotic fluid, products of conception and tumor samples. They make microscopic evaluations of the chromosome number and morphology, and prepare reports of the findings for physicians. Cytogenetic technologists use fluorescent-labeled DNA to detect gene and chromosome abnormalities associated with birth defects and cancers. This technique, called Fluorescence In Situ Hybridization or FISH, has become the most rapidly growing area in cytogenetics.

cytogenetic technologists interact with cytogeneticists, clinical geneticists, and genetic counselors to provide valuable information to health care providers from all aspects of medicine.

Cytogenetic laboratory personnel need to know about specimen requirements, handling and culturing living cells, chromosome morphology, chromosome abnormalities, methods of chromosome analysis and interpreting results of cytogenetic studies.

Clinical cytogenetics began in 1956 when the normal number of human chromosomes in each cell was established. Since then, many syndromes and diseases have been correlated with chromosome changes.

Molecular cytogenetics began in the late 1980s, when fluorescent-labeled nucleic acid probes were first hybridized with chromosomes. These fish probes can be detected on metaphase chromosomes, in interphase nuclei, in tissue sections, or even in blastomeres or gametes. The fish probes can hybridize to entire chromosomes or to single unique DNA sequences.

The type of FISH probe used is based on the type of syndrome disease condition that is suspected. The applications of fish include ploidy analysis, translocation and structural breakpoint analysis, detection of deletions and duplications too small to be observed by conventional cytogenetics (microdeletions microduplications),