How is Barth syndrome diagnosed?
If your doctor suspects that your child has Barth syndrome, she may perform medical tests, such as a urine analysis and complete blood count. If these tests indicate that your child has Barth syndrome, a diagnosis can be confirmed with DNA testing. Other tests, such as an echocardiogram, may be performed to determine the severity of your child’s condition.
A diagnosis will be made based on results, combined with medical and family history.
Pregnant women may also opt for prenatal DNA testing.