How is DiGeorge syndrome diagnosed?

How is DiGeorge syndrome diagnosed?

Healthcare providers can often see signs and symptoms of DiGeorge syndrome at birth. They may request special tests if they note issues such as seizures, unique facial features or blood tests that show low calcium levels.

Your provider will use your family medical history and these tests to diagnose DiGeorge syndrome:

• Genetic testing: A sample of blood or tissue is studied to detect faulty genes.
• Imaging tests: X-ray and CT scan tests provide images of the inside of the body. The images help identify defects in the heart and other organs.
• Physical exam: Providers examine the face, ears, eyes and joints for abnormalities.