What Exactly is Cytogenetics?

Cytogenetics is a type of testing that helps with identifying genetic defects. But before we jump into cytogenetics, we need to understand chromosomes.

Chromosomes are “thread-like” structures that contain genetic information/material of an organism. A human being normally has 23 chromosomes in its cells. These chromosomes are responsible for relaying the information needed to make the body carry out its normal functions.

What does It Entail?

Cytogenetics involves the examination of sample tissues from patients. Samples are mostly collected from bone marrow, blood, and tissue. The collected samples are carefully inspected under a high-tech microscope in a lab. When medical examiners inspect samples collected, they look to see if there are any changes to the chromosomes. They also examine to see if there are no rearranged, missing, extra or broken chromosomes.

The chromosomes are supposed to be arranged in a certain manner. If they are not arranged in that way or if there are some missing or broken, this could be an indication of some genetic defect. People who exhibit these signs usually have genetic diseases or they might point towards a certain form of cancer.

Cytogenetics has three main testing methods namely- Karyotesting, Fluorescent in situ hybridization or FISH, and comparative genomic hybridization.

The Importance of Cytogenetics

Certain people are great at running, really fast in the water, or are naturally tall. This is normally due to the makeup of your genes. This means that one can inherit good traits or features from their parents. Others, on the other hand, are not as fortunate as they inherit certain diseases that have been passed down the family tree.

Cytogenetics is used to confirm or rule out suspected diseases. It is also used to understand the type of disease as well as possible treatments if they exist. Cytogenetics is used in instances where pregnancy is deemed to be high risk. Doctors can detect early if there are going to be future problems and recommend the right treatment to prevent this from happening.