Patient Examination

Physical examination is an indispensable tool that provides support to the diagnosis with the genealogical analysis of Medical Genetics, family and patient history information. Physical examination in Medical Genetics aims to identify a unifying etiology for unrelated birth defects, developmental problems, or other abnormal findings in a fetus, child or adult, and to facilitate the pathway to diagnosis. Accurate prognostic and repeat risk estimates, clinical treatment facilities and genetic counseling are only possible by making an accurate diagnosis.

Understanding the pathogenesis of a patient's problems provides families with psychological support to cope with the guilt of “why” their children have this problem. It also enables their families to be directed to communicate with appropriate support groups and to follow up on current treatment methods.

In physical genetics, physical examination is based on the art of dysmorphology, which is based on defining abnormal findings. Detailed analysis of body structure is used to detect potential deviations from normal embryological development. Although genetic physical examination is the same as general medical examination, body structure, size, proportion, symmetry, etc. much more attention is paid to the parameters. Indeed, the precise observation and accurate definition of all physical characteristics is the cornerstone of the genetic dysmorphology examination.

In our center, patient examination is performed by Medical Genetic specialists. Based on this examination, appropriate laboratory tests for genetic diagnosis are selected, finalized and interpreted.