Pediatric Genetic Disorders

About this specialty

Pediatric genetic disorders are conditions caused by changes in a child's genes or chromosomes. They may be inherited from parents or occur spontaneously, and they can affect growth, development and many body systems with a wide range of severity. Early diagnosis allows families to access therapies, support services and regular monitoring as soon as possible.

Genetic specialists use modern testing to clarify a diagnosis, explain what it means for the child and family, and coordinate care with other departments. Many conditions can be identified before birth through genetic tests and imaging. Families coming to Turkey also receive counselling about the risk for future pregnancies.

• Chromosomal analysis and genetic testing
• Genetic counselling for families
• Evaluation of developmental delay and congenital anomalies
• Diagnosis and follow-up of metabolic disorders