Total Glycosaminoglycans (GAGs) Analysis

Test Information

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.

Turnaround Time

10 days

CPT Code(s)

83864

Cost

$150

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.

Indications

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

Methodology

1,9-dimethylene blue (DMB) colorimetric reaction that is measured by spectrophotometry.

Specimen Requirements

This analysis requires at least 3 ml of random catch urine.

Transport Instructions

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.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Analyte Analysis, Analytes and Biomarkers, Biochemical Testing
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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