Testing for Hunter Syndrome

It may take a while to get an appointment with a medical geneticist or genetic counselor, but don’t get discouraged. In order to diagnose Hunter syndrome testing needs to be done, and sometimes it can take time.

Common screening and testing used to diagnose Hunter syndrome:

Initial screening

Urinary GAG testing provides a noninvasive, widely available means screening for MPS disorders. When clinical suspicion of MPS has been raised, additional laboratory testing is often necessary to direct and/or confirm diagnosis of a specific MPS.

Definitive diagnosis

A definitive diagnosis of Hunter syndrome is made by measuring iduronate-2-sulfatase (I2S) activity. This can be done by taking blood and testing the I2S activity in serum or white blood cells, or by taking a skin biopsy and testing the I2S activity in skin fibroblasts.

Prenatal diagnosis

If you have a child with Hunter syndrome or have a family history of it, prenatal diagnosis is available by measuring I2S enzymatic activity in amniotic fluid (a sample of the fluid that surrounds the baby in utero) or in chorionic villus (placental) tissue. Prenatal diagnosis is also available via mutation analysis.