The genetic examination

What is a genetic test?

A genetic test describes an analysis of human DNA. The DNA is the carrier of the genetic material and is located in the cell nucleus, where it can be isolated by specific procedures. The DNA can then be examined.

The smallest mutations can influence gene expression and have health consequences. Which diseases are caused by these mutations is quite different, since each gene has a different task. Genetic investigations allow to identify the cause of certain diseases. Additionally, the risk of suffering from a certain disease can be predicted.

The reasons for an investigation

The reasons for carrying out a genetic examination can be different. If one is suffering from an unclear disease or wants to confirm the suspicion of a mutation, the DNA can be analyzed. Furthermore, the risk of developing a certain disease can be predicted.

A classic example is the hereditary disease Chorea Huntington. In the case of familial breast cancer or colon cancer, it is recommended to perform a genetic examination. If a mutation is present that promotes the development of cancer, precautionary measures can be taken.

In this case, preventive examinations are performed at a younger age. In this way, tumorous changes can be detected and treated early. In the case of several miscarriages and an existing desire to have children, an examination of the DNA is recommended.

In addition, the DNA of the unborn child can also be analyzed during pregnancy (so-called prenatal diagnostics). However, this is only permitted if a genetic defect could be present which could affect the health of the child during or shortly after birth. In some families, breast cancer occurs more frequently due to a mutation in the BRCA-1 or BRCA-2 gene.

These genes are known as tumor suppressor genes – they regulate cell proliferation and prevent uncontrolled growth. However, if these genes are mutated, they lose their function. As a result, cells proliferate uncontrollably and tumorous changes occur.

A BRCA mutation leads to a significant increase in the risk of developing breast cancer. In addition, the age is reduced – the cancer usually occurs before the age of 50. In addition, the risk for the occurrence of other forms of cancer is increased.

Ovarian cancer in particular is more frequent. An analysis of the BRCA gene is recommended if there is a conspicuously large number of cases in the family, if breast cancer occurs on both sides or if men are affected. These articles may also be of interest to you:

  • BRCA mutation – symptoms, causes, therapy
  • The breast cancer gene

Miscarriages are unfortunately not as rare as one suspects.

About 15% of all clinically confirmed pregnancies end prematurely. The causes are manifold. Possible are genetic, chromosomal defects, diseases of the mother, placental disorders and other diseases.

If 2 or more miscarriages have occurred and a desire to have children still exists, clarification is required. The genetic examination can identify the cause. In addition, the risk of recurrence can be assessed and possibly treated.