Mucopolysaccharide Urine Analysis

Test description The mucopolysaccharidoses are a group of inherited lysosomal storage disorders, each with a distinctive phenotype and a progressive course due to a specific enzyme deficiency. These enzymes are involved in the degradation of specific glycosaminoglycans. Glycosaminoglycans are typically elevated in the urine of affected patents. Specific enzyme analyses must be run for a definitive diagnosis.
Disease name Hurler syndrome (MPS I), Hunter syndrome (MPS II), Sanfilippo syndrome (MPS III) , Morquio syndrome (MPS IV), Maroteaux Lamy syndrome (MPS VI), Sly syndrome (MPS VII)
Indications A mucopolysaccharide storage disorder should be considered in patients with coarse facies, hepatosplenomegaly, developmental regression, corneal clouding, stiff joints and dysostosis multiplex.

The MPS urine analysis can be used as a screening tool for patients with a suspected MPS storage disorder.  This analysis includes the quantification of individual glycosaminoglycans (chondroitin sulfate, dermatan sulfate, heparan sulfate, and keratan sulfate) as well as total GAGs.

Quantitative total glycosaminoglycans can also be ordered separately and used to monitor patients with an MPS disorder who are receiving treatment such as enzyme replacement therapies.

Quantitative analysis of keratan sulfate in urine (uKS) can be used as a screening tool for patients with a suspected diagnosis of Morquio syndrome, (MPS IV).

Quantitative analysis of total glycosaminoglycans (GAGs) is performed using a 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry at a wavelength of 656 nm. GAG measurements are reported relative to the creatinine concentration in the patient's urine.

Quantification of individual glycosaminoglycans (chondroitin sulfate, dermatan sulfate, heparan sulftate, and keratan sulfate) is performed using liquid chromatography-tandem mass spectrometry. (Replaces the MPS electrophoresis) CS, DS, HS & KS levels in urine are measured by quantification of disaccharides derived from the enzymatic or chemical digestion of each glycosaminoglycan. The quantity of each individual GAG species is reported relative to the creatinine concentration in the patient's urine.

Associated Tests

An MPS Enzyme Panel is available to confirm a suspected MPS diagnosis. Each enzyme test can also be ordered individually. We also offer enzyme panels for Sanfilippo syndrome Types A-D and Morquio syndrome Types A and B.
Sequencing in the Molecular Diagnostic Lab is also available for the following disorders:
Hurler syndrome, MPS I (IDUA sequencing)
Hunter syndrome, MPS II (IDS sequencing)
Sanfilippo A, MPSIIIA (SGSH sequencing)
Sanfilippo B, MPSIIIB (NAGLU sequencing)
Sanfilippo C, MPSIIIC (HGSNAT sequencing)
Sanfilippo D, MPSIIID (GNS sequencing)
Morquio A, MPS IVA (GALNS sequencing)
Morquio B, MPS IVB (GLB1) Sequencing
Maroteaux-Lamy, MPS VI (ARSB sequencing)
Sly syndrome, MPS VII (GUSB sequencing)

Specimen Requirements At least 3 ml of a random catch sample of urine is needed for mucopolysaccharides analysis.
Transport Urine samples must be frozen, preferably on dry ice. Samples must be sent frozen via overnight delivery or courier.
Turnaround time 21 days for complete MPS analysis

10 days for quantitative total glycosaminoglycans only
CPT Codes Complete MPS urine analysis - 83864 (x3)

Glycosaminoglycans, total quantitative only - 83864

Keratan Sulfate only - 83864
Cost Complete MPS analysis - $450

Glycosaminoglycans, total quantitative only - $150

Keratan Sulfate only - $150
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.


The MPS Analysis now includes the quantification of individual      glycosaminoglycans  via tandem mass spectrometry which replaces the MPS electrophoresis.  This is in addition to the quantification of total GAGs via DMB binding assay. 


Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

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