Clinical Genetics / Genetic Consultation: General Information

Genetic consultation is a health service that provides information for individuals and families who are concerned about or are at risk for diseases caused by a genetic disorder.

Genetic consultation serves the identification, allocation and diagnostics of genetic disorders and accompanying diseases. If a person is diagnosed with a genetic condition, the progression of the disease, its prevalence rate and inheritance patterns will be explained to the patient, couple, or family.

It is the patient’s decision whether genetic diagnostics is performed and requires his or her written consent. People seeking genetic counseling are helped to understand genetic testing options and encouraged to make their own decision. The details discussed at a genetic counseling visit are subject to medical confidentiality.

Predictive molecular genetic diagnostics for genetic diseases that may occur during adulthood are only offered to people of full age and after a cooling off period following the first genetic counseling visit.

What is genetic counseling?

  • Find answers to your questions about origins of genetic conditions and how they affect you
  • Review your family and medical histories (patient history)
  • Interpret the results of genetic tests and medical data
  • Provide a full physical examination if important to rule out or diagnose a genetic condition
  • Recommend laboratory tests such as a blood test or tissue examination if important to rule out or diagnose a genetic condition
  • Discuss general genetic risks
  • Evaluate specific genetic risks
  • Help each person make informed, independent decisions about their health care and reproductive options

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Why might I have a genetic consultation?

  • A personal or family history of a genetic condition, or developmental disorder
  • A child with a birth defect, or developmental delay potentially caused by a genetic disorder
  • Disease of the skeleton caused by a genetic disorder
  • Undesired childlessness and/or two or more pregnancy losses (miscarriages)
  • Concern about risks to the pregnancy (e.g. associated with increasing parental age)
  • Concern about risks to the pregnancy due to an increased level of exposure to radiation or medication

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How can I prepare for a genetic counseling visit?

For the diagnosis of a genetic condition it is necessary to collect detailed information about both the patient’s medical conditions (patient history) and his or her relative’s medical conditions (family history). A central aspect of a genetic counseling visit is the creation of a family tree. Before your visit, it can therefore be useful to ask your relatives what medical conditions occured in your family.

Please gather all of your medical records and, if possible, of any family members who may also be affected by a genetic condition. These may include patient notes, ultrasound findings, X-ray findings, CT findings and MR findings.

If you bring your child for a genetic counseling visit we are interested in knowing what symptoms have occurred, if your child is prone to certain diseases, if your child has had any operations and which tests have been performed (e.g. hearing test). Please bring all medical records relating to your child.

If you do not have private heath insurance you will need to be referred by a practitioner. To avoid long waiting times please make an appointment by telephone.

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What happens after a genetic consultation?

After a genetic counseling visit, a report will be sent to you or to your physician if preferred. The report will contain a statement of your original concern, information you provided about your family tree, a report of examinations that have been performed or are recommended and an evaluation of your request.

Depending on the results of the genetic testing you may be asked to come back for a follow-up appointment in which the genetic counselor will explain the diagnosis and refer you to other medical specialists. In some cases, especially when children are concerned, it may be advisable to come back at a later date if it was impossible to provide an appropriate diagnosis during the first visit. If you have any questions, please contact us by telephone.

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Prof. Dr. med. Denise Horn
Head Clinical Genetics/Genetic Consultation
t: +49 30 450 569 132

[Englische Übersetzung] Anmeldung

Katrin Mittendorfer
Anmeldung Ambulanz
t: +49 30 450 569 132