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Karyotyping is a cytogenetic study that allows us to identify structural and quantitative abnormalities of chromosomes.

In a karyotyping test, cells—usually taken from a blood sample—are cultivated and used to stop the cells from dividing at a specific stage. Next, the chromosomes are observed under a microscope to assess their structure, size, and arrangement. Any abnormalities such as missing or extra chromosomes, translocations, or large-scale deletions can be detected through this analysis.


Benefits of Karyotyping

  • Diagnosis of genetic disorders: Karyotyping helps identify chromosomal abnormalities associated with genetic conditions such as Down syndrome, Turner syndrome, Klinefelter syndrome, and many others. It provides essential information for accurate diagnosis and appropriate management of these disorders.
  • Investigating causes of spontaneous abortion or stillbirth: Karyotyping is often performed when couples experience a sudden miscarriage or stillbirth. It helps determine whether chromosomal abnormalities in the fetus contributed to these unfortunate outcomes.
  • Cancer and Genetic Susceptibility Assessment: Karyotyping is used in oncology to evaluate chromosomal changes associated with certain types of cancer. It helps in the specific diagnosis of leukemia, lymphoma and other malignant tumors. In addition, karyotyping can identify genetic factors that may increase an individual’s susceptibility to certain diseases.