Mucopolysaccharidosis VI, Maroteaux-Lamy syndrome : Urine Monitoring

Test Information

Quantitative total glycosaminoglycans and dermatan sulfate (uDS) component GAGs can be used to monitor patients with with Maroteaux Lamy syndrome (MPS VI).

Turnaround Time

10 days

CPT Code(s)

83864 x2

Cost

$300

Clinical Information

Maroteaux Lamy syndrome is characterized by short stature, coarse facies, corneal clouding, joint stiffness and contractures and splenomegaly. Other features may include inguinal hernia, obstructive airway disease, skeletal abnormalities and cardiac valve disease. The progression of Maroteaux Lamy syndrome varies among affected individuals, and intelligence is typically not affected.

Indications

For patients with an existing MPS diagnosis, measurement of glycosaminoglycans in urine can be used to monitor the effectiveness of treatments such as bone marrow translpant or enzyme replacement therapies.

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 MPS urine monitoring.

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

Analytes and Biomarkers, Biochemical Testing, Urine Monitoring
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