Human genetics

There are many situations in which genetic counselling is appropriate. This is because in almost all areas of medicine there are disease patterns that can be traced back to genetic changes. At the MVZ, we primarily address three patient groups:

• Parents who are concerned about the development of their already born child: due to developmental delays, malformations, syndromic diagnoses, metabolic disorders, etc.
• Adults who are affected themselves: by frequent tumour diseases in the family, other hereditary diseases, nerve disorders, unfulfilled desire to have children, multiple miscarriages, etc.
• Parents who are concerned with the topic before or during pregnancy: due to advanced age, abnormalities in the first trimester/trimester test or ultrasound, due to family burden of possibly genetic diseases, etc.

Due to a raised risk of malformation, human genetic counselling and possibly chromosomal analysis is recommended, especially in the case of treatment by assisted reproduction (IVF/ICSI).

The choice of examinations depends on the individual case. We often perform the following work:  

• Creation of a family tree over three generations
• Genetic counselling on risks before and during pregnancy 
• Abortion diagnostics and search for causes of unhappy and complicated pregnancies
• Cytogenetic study: Chromosome analysis from blood, amniotic fluid and from the cells of the placental villi or the aborted tissue
• Molecular genetics for the detection of genetic defects (changes in individual hereditary characteristics of both partners that can lead to a disease) 
• Counselling outside pregnancy for hereditary diseases in the family: Cancer, metabolic disorders, tendency to thrombosis, neurological diseases etc. 
   

The content of the human genetic counselling depends on your individual needs and questions, the counselling takes up to 1.5 hours. Further discussion is necessary in individual cases. At the beginning we usually collect your medical history, if necessary the medical history of other family members as well as a family tree of at least three generations. In addition, we evaluate existing medical findings with regard to their medical-genetic significance; occasionally, missing documents have to be obtained. 

Depending on the problem, we will examine you medically or coordinate further examinations with other specialist departments. If these were or are performed here in the MVZ PAN Institute or in the PAN Clinic, this facilitates and accelerates the exchange of information. We then recommend special laboratory tests: Chromosome analyses, biochemical or molecular genetic examinations, etc. In the case of rare malformation complexes, we can try to classify the clinical picture by comparison with the specialist literature and databases.

In a joint discussion you will learn the current state of knowledge about the respective clinical picture and its treatment options. We will also discuss the risk of illness for you and your family members. At the end of your genetic counselling, you will receive a written report. 
 

Human genetic counselling, like indicated genetic diagnostics, is a service provided by statutory and private health insurance companies. People with statutory health insurance can come to the consultation by appointment with their insurance card or a referral slip.