When Is Cytogenetics Used?

Changes in certain chromosomes may be a sign of a genetic disease or condition or some types of cancer. Cytogenetics may be used to help diagnose a disease or condition, plan treatment, or find out how well treatment is working.

When would cytogenetic testing be used?

Cytogenetic testing is used in haematological cancers such as chronic myeloid leukaemia where a specific reciprocal translocation between chromosomes 22 and 9 results in the Philadelphia chromosome, that is present in 95% of cases.

What are the applications of cytogenetics?

One important area of application for cytogenetic techniques is in cancer management, to detect somatic genetic changes in the neoplastic cells. This is particularly relevant for haematological malignancies, but there are increasing numbers of solid tumours where cytogenetics has a role.