Patients with mucopolysaccharide (MPS) storage disorders cannot break down specific glycosaminoglycans (GAGs) in the lysosome, which results in their accumulation in body tissues and their abnormal excretion in the urine. The presence of elevated concentrations of GAGs in a patient’s urine is a useful initial screening tool in making a diagnosis of an MPS disorder.
10 days
83864
$150
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.
A mucopolysaccharidosis may be considered in children with: developmental delay regression of acquired skills failure to thrive coarse facies hepatosplenomegaly corneal clouding stiff joints dysostosis multiplex
1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry.
This analysis requires at least 3 ml of random catch urine.
The urine sample must be frozen, preferably on dry ice. If the sample can be delivered the same day, it may be sent cold or at room temperature. Samples must be sent frozen by overnight delivery services or courier.
Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC