Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS)

Turnaround Time

14 days

CPT Code(s)

83864 x3

Cost

$450

• Hurler Syndrome (MPS I)
• Hunter Syndrome (MPS II)
• Sanfilippo syndrome A (MPS IIIA)
• Sanfilippo syndrome B (MPS IIIB)
• Sanfilippo syndrome C (MPS IIIC)
• Sanfilippo syndrome D (MPS IIID)
• Morquio syndrome A (MPS IVA)
• Morquio syndrome B (MPS IVB)
• Maroteaux-Lamy syndrome (MPSVI)
• Sly Syndrome (MPS VII)

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.

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.

At least 3 ml of a random catch sample of urine is needed for the mucopolysaccharidosis urine analysis.

Urine samples should be frozen after collection. Samples must be sent frozen via overnight delivery or courier, preferably on dry ice.