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