Mucopolysaccharidosis

Optimize diagnosis and disease management

Seven unique types and many subtypes of mucopolysaccharidosis (MPS) have been identified. Caused by a lack or deficiency of certain enzymes, mucopolysaccharidoses can result in permanent, progressive cellular damage that impacts an individual’s appearance, abilities, organ function, and frequently, intellectual development. Mucopolysaccharidoses share clinical features, however, each type presents differently and with varying levels of severity. Most affected patients have a period of normal development prior to the onset of symptoms.

There is no cure for these disorders, however, treatments such as surgery, bone marrow transplantation, and enzyme replacement therapy can help manage symptoms. Testing to diagnose the specific disorder type can help with disease management as well as enable enrollment into clinical trials.

Our MPS test offerings include enzyme analysis, biomarker testing, and molecular testing to confirm diagnosis, and monitoring assays to assist with disease management. In addition, molecular genetic testing for the disorders presented here, and many others not included in pre-existing panels, is available through our custom gene ordering tool.