I am hereditarily Predisposed

In human genetics, we deal with several thousand, sometimes very rare, disease patterns. Today, many of them can be diagnosed by modern medical methods.

Genetically determined diseases are subdivided according to cause and type of inheritance.

Hereditary Diseases

Chromosomal diseases

The cause of the symptomatology is a change in chromosome number or chromosome structure.
If a chromosomal disease is suspected, a chromosome analysis can be offered.

Monogenic disease

The alteration of a single gene can be responsible for the development of a genetic disease. Such gene changes (also called pathogenic variants or mutations) can lead to the deficiency of a certain enzyme or protein or its change in function.

Monogenic diseases may differ in the pattern of inheritance.

Different organs and body functions of humans can be affected. The causes of more than 2000 monogenic diseases have already been identified. Databases such as Orphanet provide an overview.

If a monogenic inherited disease is suspected, molecular genetic testing can be offered.

Polygenic disorders disease

These result from the interaction of several or many variants in different genes, often with the involvement of other factors (environment).

For many common diseases with polygenic involvement, a sensible genetic diagnosis for the individual patient is not yet possible. In some cases, however, a statistical statement about a disease risk is possible through the examination of certain variants.

Consultations

Procedure/Diagnostics

Any physician can order genetic testing for patients with clinical symptoms for a genetic diagnosis/disease. A prerequisite for the procedure is prior medical information and the patient's consent (differential diagnostic testing).

In many cases, however, genetic counseling by a specialist in human genetics or by a physician with appropriate qualifications within the scope of his or her specialty is advisable first.

In healthy individuals and family members with a genetic diagnosis in the family, genetic diagnostics should only be initiated after genetic counseling by a specialist in human genetics (or by a physician with appropriate qualifications within the scope of his or her specialty).

A discussion of findings in a genetic counseling session is recommended to explain genetic test findings.

In most cases, genetic diagnostics can be arranged from simple blood samples taken from the patient.
For chromosome analysis (cytogenetic examination), 2-10 ml of blood are required.

Molecular genetic testing is also performed with blood samples. In some cases, an oral mucosal swab is also sufficient here.

In pregnancies, prenatal genetic diagnostics can be performed, e.g. after amniocentesis or chorionic villus sampling by a gynecologist or prenatal physician. Non-invasive methods such as first trimester screening or NIPT can also provide information on risks for certain chromosomal abnormalities.

Genetic diagnostics are always voluntary. Each patient can decide for themselves whether they consent to genetic testing.

COSTS

Provided that the responsible medical person (according to GenDG) gives an indication for an examination, human genetic services in the context of pregnancy can usually be billed to the associations of statutory health insurance physicians.

For privately insured patients, the laboratory services provided are clearly summarized in one invoice. This invoice is submitted to the private health insurance company for reimbursement. At this time, we recommend that you inquire about the possibility of reimbursement by your health insurance before undergoing the examination.

Human genetic testing can also be offered as a self-pay service. In this case, the costs must be borne by the patient without the possibility of reimbursement.