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. This test includes quantitative measurement of total glycosaminoglycans as well as quantitation of the individual GAG components, including heparan sulfate, dermatan sulfate, chondroitin sulfate, and keratan sulfate.
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 Glycosaminoglycans are typically elevated in the urine of affected patents. For patients with a suspected MPS diagnosis, measurement of glycosaminoglycans in urine can be a useful screening test.

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 (uCS), dermatan sulfate (uDS), heparan sulfate (uHS), and keratan sulfate (uKS)- is performed using liquid chromatography-tandem mass spectrometry.

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 each of the MPS 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 the mucopolysaccharidosis urine analysis.
Transport Urine samples should be frozen after collection. Samples must be sent frozen via overnight delivery or courier, preferably on dry ice.
Turnaround time 10 days
CPT Codes 83864 (x3)
Cost $450
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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