Medical Genetics

What do we do

In the Medical Genetics outpatient clinic, patients with suspected rare genetic diseases are evaluated and clinical diagnosis and follow-up services are provided. In addition, genetic counseling is provided in our polyclinic. The field of medicine concerning the diagnosis and treatment of inherited diseases is medical genetics. In that human genetics is an area of scientific study that may or may not extend to medicine, medical genetics varies from human genetics because medical genetics applies to the application of genetics to medical treatment. Research on the origins and inheritance of genetic diseases, for example, would be taken into consideration of both human genetics and medical genetics, while diagnosis, management, and therapy would be considered part of medical genetics for individuals with genetic disorders.

Diagnosis and Treatment Areas

Patients of all ages with congenital multiple anomalies
IVF failure and inability to have children (infertility)
• A history of miscarriage for more than 2 unknown reasons
Advanced maternal age and pregnancy (> 35 years)
• High risk detection in 2-and 3-test during pregnancy
• Anomaly detection in the baby during USG during pregnancy
• Pre-marriage counseling
• Having a hereditary disease in the family
• History of genetic disease in the first baby
Family cancer history
• Mediterranean anemia
Familial Mediterranean fever

• Cystic fibrosis
Patients diagnosed with Amyotrophic Lateral Sclerosis (ALS)
Duchenne Muscular Dystrophy (DMD)
Those with a history of spinal muscular atrophy (SMA)
Gender development disorders
Muscular diseases
• Mental retardation, growth and development retardation,
• Diagnosis and follow-up of treatment of children with short stature or multiple organ anomalies
• Hereditary hearing and vision problems.
Diagnostic appraisal
Each patient will undergo a medical examination customized to their own specific signs and symptoms presenting. A differential diagnosis will be developed by the geneticist and appropriate tests will be recommended. Such tests can screen for chromosomal abnormalities, inborn metabolic errors, or single gene disorders.