Medical genetics is concerned with diagnosis and prevention of diseases with hereditary component. The clinic mainly focuses on diseases and conditions which affect fertility and lead to birth defects. We also focus on hereditary sensory defects and tumor diseases in our specialized counseling.
What are the reasons for genetic testing?
- congenital defect or disease with possible hereditary component in the family
- birth of a child with a congenital defect
- infertility, recurrent miscarriages, stillbirth
- pregnancy planning after cancer treatment
- recurrent tumors or early occurrence of tumors in the family
- family relationship
- of mothers aged over 35 years, fathers over 45 years
- with positive result of ultrasound or biochemical examination
- with risk of recurrence of hereditary defects that have already occurred in the family
- with exposure to outer conditions - drugs, ionizing radiation (X-ray) or infectious diseases
How is genetic testing performed?
The physician - clinical geneticist - determines details regarding the health of the patient and diseases of the family members (medical history). The geneticist creates a family tree of at least three generations on the basis of the information (genealogy). Evaluation of the case history and genealogy helps to determine the type of hereditary disease in the family. The examination can be specified with a consulting examination of a specialist from a different field or a specific laboratory or imaging examination is indicated, such as:
- examination of chromosomes
- examination of congenital changes (mutations) of genes
- biochemical examination
- ultrasound examination
- other necessary examinations