DiGeorge Syndrome (22q11.2 deletion syndrome)

DiGeorge syndrome can be detected prenatally based upon prenatal ultrasound results and amniocentesis.

If not detected prior to delivery, your healthcare providers will likely diagnose DiGeorge syndrome soon after your child is born. They may request special tests if they suspect the condition based on symptoms such as seizures, unique facial characteristics or blood tests that show low calcium levels.

What tests diagnose DiGeorge syndrome?

Your healthcare provider will review your family medical history and the following tests to diagnose 22q11.2 deletion syndrome: