A clinical cytogeneticist detects and analyses hereditary diseases and abnormalities. This is achieved by studying chromosomes that have been obtained from samples of blood, bone marrow, body fluid, amniotic fluid or foetal tissue samples.
The detection and interpretation of chromosome abnormalities is part of the management and treatment of many illnesses and disorders, including mental health issues, prenatal defects, infertility, and malignancies, which include some leukaemias.
Cytogenetics, as a scientific discipline, draws its knowledge and techniques from both cytology (the study of cells) and genetics (the science of heredity) and this is reflected in the role. It requires the use of diagnostic screening methods, including cell culture and microscopy techniques.
The work of a clinical cytogeneticist falls into three main categories:
In general, common tasks might include:
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