Use

This test supports the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens. It is intended for patients with clinical signs and symptoms suspicious for MPS VI. Results indicating enzyme deficiency may warrant additional biochemical or molecular testing to confirm the diagnosis. MPS VI is a lysosomal storage disorder caused by a deficiency in N-acetylgalactosamine 4-sulfatase, leading to dermatan sulfate accumulation with variable clinical features such as short stature, dysostosis multiplex, and degenerative joint disease.