Mucopolysaccharidosis (MPS) : Urine Analysis

Test Information

This test includes quantitative analysis of total glycosaminoglycans (GAGs) and individual component GAGs including heparan sulfate, dermatan sulfate, chondroitin sulfate, and keratan sulfate.

Turnaround Time

14 days

CPT Code(s)

83864 x3

Cost

$450

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

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.

Methodology

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.

Specimen Requirements

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

Transport Instructions

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

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
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Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two.   At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.  Then she suddenly stopped all of that.  At her 2 year old check-up, the pediatrician referred us to BabyNet, ...

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