Mucopolysaccharide Analysis

Test description The mucopolysaccharides are a group of inherited lysosomal storage disorders, each with a distinctive phenotype and a progressive course due to severe deficiency of an enzyme which usually catalyzes a step in the degradation of specific glycosaminoglycans. In general, excessive quantities of glycosaminoglycans are excreted in the urine of affected patents which can be analyzed. 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 dystosis multiplex.

The MPS analysis can be used as a screening tool for patients with a suspected MPS storage disorder.  This analysis includes the MPS electrophoresis and quantitative, total glycosaminoglycans.

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).
Methodology Qualitative analysis of mucopolysaccharides will be made by electophoresis with positive and negative controls run concurrently.

Quantitative analysis of mucopolysaccharides is performed using a 1,9-dimethylene blue (DMB) colorimetric reaction that is measure by spectrophotometry at a wavelength of 656 nm.

Keratan sulfate (KS) levels in human urine are measured by quantification of two disaccharides derived from keratan sulftate in urine using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Keratan sulfate measurement 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)
Maroteaux-Lamy, MPS VI (ARSB sequencing)
Sly syndrome, MPS VII (GUSB sequencing)

Specimen Requirements At least 10 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 analysis - 83864 (x2)  & 83866

Glycosaminoglycans, total quantitative only - 83864

Keratan Sulfate only - 83864
Cost Complete MPS analysis - $400

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.

Biochemical Lab

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

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