Cytology & Histology

Cytogenetics

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Cytogenetics refers to the microscopic analysis of chromosomes in individual cells. Cytogenetics can be performed on fresh blood, bone marrow, prenatal specimens, and solid tissue specimens, and on fixed specimens. Changes that affect the number and/or structure of the chromosomes can cause problems with growth, development, and how the body functions. Changes to chromosome structure can disrupt genes, causing the proteins made from disrupted genes to be missing or faulty. Depending on size, location, and timing, structural changes in chromosomes can lead to birth defects, syndromes or even cancer. Alternatively, some chromosomal changes may have no effect on a person’s health.Cytogenetic analyses are commonly performed during pregnancy to determine if a fetus is at risk for common aneuplodies syndromes caused by structural abnormalities or to determine if extra or missing genetic material is present through cytogenetic microarray testing.