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