Iduronate-2-Sulfatase, Blood Spot

Use

This test supports the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome), an X-linked lysosomal disorder caused by the deficiency of the iduronate sulfatase enzyme. It is useful for individuals with positive newborn screen results or clinical signs and symptoms suspicious for MPS II. While this test can detect enzyme deficiency, additional biochemical or molecular genetic analyses are required for confirmation. Early diagnosis and treatment are crucial, as therapies such as hematopoietic stem cell transplantation and enzyme replacement have been shown to improve clinical outcomes.