Hunter syndrome (MPS II), Hurler syndrome (MPS I), Maroteaux-Lamy syndrome (MPS VI), Morquio syndrome A (MPS IVA), GM1 gangliosidosis (Morquio B), Sanfilippo syndrome A (MPS IIIA), Sanfilippo syndrome B (MPS IIIB), Sanfilippo syndrome C (MPS IIIC), Sanfilippo syndrome D (MPS IIID), Sly syndrome (MPS VII)
Total Glycosaminoglycans (GAGs) Analysis
Total Glycosaminoglycans (GAGs) Analysis
Patients with mucopolysaccharidosis (MPS) storage disorders are unable to break down specific glycosaminoglycans (GAGs) in the lysosome, leading to their accumulation in body tissues and abnormal excretion in the urine. This test detects elevated concentrations of GAGs in a patient’s urine and can be used as a screening tool for diagnosing an MPS disorder.
Clinical Information
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.
Technical Information
1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry.
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
Associated Tests
- Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS)
- Maroteaux-Lamy Syndrome (MPS VI): Urine Monitoring (Total GAGs, DS)
- Morquio Syndrome (MPS IV): Urine Monitoring (Total GAGs, KS, CS)
- Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS)
- Sanfilippo Syndrome (MPS III): Urine Monitoring (Total GAGs, HS)
- Sly Syndrome (MPS VII): Urine Monitoring (Total GAGs, DS, CS)
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