Use

This test supports the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) in whole blood specimens. MPS II is an X-linked lysosomal disorder caused by the deficiency of iduronate sufatase enzyme due to variants in the IDS gene. The clinical features and severity of symptoms vary widely, ranging from severe infantile onset disease to milder forms with later onset. Symptoms include coarse facies, short stature, enlarged organs, and neurologic involvement. Early diagnosis and treatment are desirable due to availability of therapies such as stem cell transplantation and enzyme replacement, which improve outcomes.