Frequently Asked Questions

If a disease occurs in several members of a family, either from the same or from different generations, it might be hereditary. However, hereditary disorders may also occur sporadically, i.e. they may affect only one member of a family. They follow different patterns of inheritance with varying chances of occurring or recurring.

Coming to genetic counselling is your own free choice. There is a wide variety of situations in which we encourage to seek genetic counselling, for example:

  • A condition occurring in your family is suspected or known to be genetic.
  • Congenital malformations/syndromes have occurred in your family.
  • Your child has an unclear developmental disorder with or without malformations.
  • Your family has a history of suspected hereditary cancer.
  • You and your partner are blood-related.
  • You have experienced two or more pregnancy losses of unclear cause.
  • You are planning to become pregnant using assisted reproductive technologies.
  • You have been exposed during pregnancy to radiation, drugs or chemicals that could cause genetic defects.
  • You wish to learn more about prenatal testing, for example in relation to increased maternal age.

First of all, we will discuss with you the concerns that prompted you to seek genetic counselling. We will then collect your medical and family health history and draw a pedigree. Depending on the reason for your visit, your counselling physician will perform a physical examination and/or will recommend visiting a medical specialist for additional tests. We will explain in detail the clinical aspects of the condition of interest, its genetic basis and available options for genetic testing. If any medical records or results of previous testing exist relating to your concerns, it will be very helpful if your doctor sends them to us before your visit.

A first counselling session usually lasts one to two hours. Depending on the situation, we will invite you to come back for another appointment, for example to discuss the results of genetic testing. After the counselling session, we will write a report for you and your doctors.

Genetic disorders are caused by changes in the DNA (desoxyribonucleic acid). Single-gene diseases (Mendelian disorders) result from a change (or changes) affecting only one gene. For many of these disorders, we know which gene is associated, while for others we don’t. If the causative gene is known, it is possible to analyze the DNA of an affected person to either confirm or rule out a clinically suspected disease.

Genetic testing is often important to establish an accurate diagnosis, but also, for example, to specify the recurrence risk of a disease in future offspring of parents with an affected child. Genetic testing can also be performed to find out whether a person carries a DNA change linked to a certain condition before any signs or symptoms appear (predictive testing) or whether an unborn baby has a specific genetic change (prenatal testing).

Genetic testing is usually done on a blood sample. In prenatal testing, DNA is obtained from chorionic villi or from cultured amniotic fluid cells. According to German law (Gendiagnostikgesetz), genetic testing can only be performed if the relevant person has received genetic counselling and given written informed consent.

Kontaktieren Sie uns

We're not around right now. But you can send us an email and we'll get back to you, asap.

Not readable? Change text. captcha txt

Start typing and press Enter to search