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), GM1 gangliosidosis (Morquio B), Maroteaux-Lamy syndrome (MPS VI), Sly syndrome (MPS VII)
Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS)
Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS)
This test quantitatively measures total glycosaminoglycans (GAGs), dermatan sulfate (uDS), chondroitin sulfate (uCS), keratan sulfate (uKS), and heparan sulfate (uHS) to monitor patients with mucopolysaccharidosis (MPS).
Clinical Information
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 the quantitative measurement of total glycosaminoglycans as well as quantitation of the individual GAG components, including heparan sulfate, dermatan sulfate, chondroitin sulfate, and keratan sulfate.
Technical Information
Total glycosaminoglycans are analyzed by 1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry. Chondroitin sulfate, dermatan sulfate, heparan sulfate and keratan sulfate are analyzed by liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Specimen Requirements
Urine: A minimum of 2 mL random catch urine
Transport Instructions
Urine: Specimen should be frozen after collection and shipped frozen, preferably on dry ice
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC