What does a Cytogenetic Technologist do?

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  • Written By: B. Melville
  • Edited By: C. Wilborn
  • Last Modified Date: 09 November 2019
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Cytogenetic technologists work with cell structures called chromosomes. Chromosomes are coiled bodies of DNA that reside within the cells of organisms. Chromosomes contain genetic material, and the correct number and structure are essential to a healthy human life. Abnormalities in chromosomes can therefore lead to serious issues in health and development. Cytogenetic technologists identify such abnormalities in a laboratory setting.

Human beings usually have 46 chromosomes, located in the nuclei of most cells. Down Syndrome, also called trisomy 21, is an example of a chromosomal disorder whereby extra genetic material results in cognitive impairment, and a higher risk to other health problems such as heart defects. A cytogenetic technologist may study samples taken from a fetus or after a child is born. In the cases of Down Syndrome, the technologist would find an additional partial or complete copy of chromosome 21.

Laboratory skills are essential for a cytogenetic technologist, including an understanding of the relevant safety issues and any ethical considerations. Duties can vary from job to job, but techniques commonly used by the cytogenetic technologist include conventional karyotyping and fluorescent in situ hybridization (FISH). A karyotype is a picture of an organism’s chromosomes in size order, and is used to identify changes in chromosome number or structure. FISH uses fluorescent probes to assess small areas of DNA, even individual genes. FISH is gaining popularity in laboratory settings.


A number of skills are required in this field, including attention to detail and the ability to work independently, as this type of work can mean spending a lot of time alone. However, a cytogenetic technologist needs good communication skills, especially if he or she is working in a hospital. He or she must be able to communicate their work to other professionals, who may not have the same scientific knowledge. The work is not limited to hospital settings, as research laboratories and private medical laboratories offer similar career opportunities.

Qualifications and training required for becoming a cytogenetic technologist vary depending on location and job specification. In some countries, such as the US, a bachelor's or graduate degree is usually required, and may include training in a clinical environment. Those interested in a genetics career may benefit from contacting laboratories in the location they wish to work, to see what sort of qualifications and salary are expected. Generally, however, studying science subjects, particularly biology, is likely to offer a useful foundation. More information can also be found by contacting the Association of Genetic Technologists.


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