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Tests and diagnosis
By Mayo Clinic staffConfirmation of a diagnosis of Hunter syndrome requires tests performed on blood, urine or tissue samples. Your doctor will look for excess glycosaminoglycans in your child's urine or a deficiency of enzymes in your child's body fluids or cells.
Sometimes secondary health issues can lead to a diagnosis of Hunter syndrome. For example, if your child has recurrent pneumonia, a chest X-ray may show irregularly shaped vertebrae and ribs, a common sign of this syndrome. This finding could lead to further testing and an earlier diagnosis of the disease. However, because the disorder progresses slowly and its signs and symptoms overlap with a number of other disorders, definitive diagnosis may take some time.
Prenatal testing
Prenatal testing of the fluid that surrounds the baby (amniocentesis) or taking a tissue sample from the placenta (chorionic villus sampling) can verify if your child carries a copy of the defective gene or is affected with the disorder.
