These hereditary diseases can be determined by genetic testing

Hereditary diseases can have very different mechanisms of development and can therefore be difficult to diagnose. There are so-called “monoallel” generic diseases, which are triggered 100% by a known defective gene. On the other hand, several genes in combination can cause the disease or a genetic modification can be only one factor in the development of a multifactorial disease.

The prerequisite for the determination of a genetic defect is that the gene and the genetic disease are known and specifically investigated. This requires a suspected diagnosis with indications of a defective gene. It is very difficult to compile a list of all diseases, since new genes are constantly being added, which are used to predict diseases.

One should also keep in mind that for many diseases the statement is no guarantee for the occurrence of the disease. Chromosomal diseases: these are diseases that develop in the womb in very early stages.Often, there is already a maldistribution on the maternal or paternal side before fertilization, which then leads to an incorrect number of chromosomes in the fetus. These diseases can often be tested during pregnancy or later.

There are about 5000 diseases, of which about 1000 can be detected during pregnancy. Classical examples are: Trisomy 13,18 and 21 as well as Klinefelter syndrome (47,XXY), Turner syndrome (45,X), Cri-du-chat syndrome, phenylketonuria, cystic fibrosis, Marfan syndrome, various muscular dystrophies and many more. Tumour markers: They do not provide direct information about the onset of a disease, but serve as a predictive value to possibly be able to find a possible tumour more quickly by having regular check-ups and check-ups due to an increased risk.

Variable expressiveness: Even in later life, diseases can occur that have never caused a symptom before. In the case of diseases such as Huntington’s disease, for example, the disease characteristic is present (penetrance), but the disease usually does not break out until middle age (expressiveness). This disease develops 100% if one does not die before the time of the symptoms otherwise.

Since some diseases show up late, it is often useful to have children tested for diagnostic reasons to see if they have the characteristic before symptoms appear.

Chromosomal diseases: these include diseases that develop in the womb in very early stages. Often there is already a maldistribution on the maternal or paternal side before fertilization, which then leads to an incorrect number of chromosomes in the fetus.
These diseases can often be tested during pregnancy or later. There are about 5000 diseases, of which about 1000 can be detected during pregnancy. Classical examples are: Trisomy 13,18 and 21 as well as Klinefelter syndrome (47,XXY), Turner syndrome (45,X), Cri-du-chat syndrome, phenylketonuria, cystic fibrosis, Marfan syndrome, various muscular dystrophies and many more.
Tumour markers: They do not provide direct information about the onset of a disease, but serve as a predictive value to possibly be able to find a possible tumour more quickly by having regular preventive examinations and check-ups due to an increased risk.
Variable expressiveness: Even in later life, diseases can occur that have never caused a symptom before.
In diseases such as Huntington’s disease, the disease characteristic is present (penetrance), but the disease usually does not break out until middle age (expressiveness). This disease develops 100% if one does not die before the time of the symptoms otherwise. Since some diseases show up late, it is often useful to have children tested for diagnostic reasons to see if they have the characteristic before symptoms appear.