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, but 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.
Mucopolysaccharidoses (MPS) screening and monitoring
Biochemical testing
- LSD6W | Lysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes
- LSDS | Lysosomal Storage Disorders Screen, Random, Urine
- MPSQU | Mucopolysaccharides Quantitative, Random, Urine
- MPSER | Mucopolysaccharides Quantitative, Serum
- MPSWB | Mucopolysaccharidosis, Blood
- MPSBS | Mucopolysaccharidosis, Blood Spot
- MP9W | Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes
- MP8BS | Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot
- PLSD | Lysosomal and Peroxisomal Disorders Screen, Blood Spot
Molecular testing
MPS Type 1 (Hurler/Scheie syndrome)
Biochemical testing
Molecular testing
MPS Type II (Hunter syndrome)
Biochemical testing
Molecular testing
MPS Type III (Sanfilippo syndrome, types A, B, C, and D)
Biochemical testing
- MPS3B | Mucopolysaccharidosis III, Three-Enzyme Panel, Blood Spot
- MPS3W | Mucopolysaccharidosis III, Four-Enzyme Panel, Leukocytes
MPS Type IV (Morquio syndrome, types A and B)
Biochemical testing
- BGA | Beta-Galactosidase, Leukocytes
- MPS4B | Mucopolysaccharidosis IV Enzyme Panel, Blood Spot
- MPS4W | HydroxyglMucopolysaccharidosis IV Enzyme Panel, Leukocytes
MPS Type VI (Maroteaux-Lamy syndrome)
Biochemical testing
MPS Type VII (Sly syndrome)
Biochemical testing
Custom gene ordering
Our custom gene ordering allows the creation of a custom gene list to tailor molecular testing to a patient’s exact need. After selection of the inborn errors of metabolism disease state, the custom gene panel can be modified to add or remove genes. Through this option, single-gene testing or a custom gene panel can be performed.
Key testing
References
- Mucopolysaccharidoses. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/health-information/disorders/mucopolysaccharidoses. Page review Nov. 2023. Accessed. May 2024.