Mucopolysaccharidosis IV (MPSIV), Morquio syndrome : Urine Monitoring (Total GAGs, KS, CS)

Test Information

Quantitative total glycosaminoglycans can be used to monitor patients with any MPS disorder in combination with the specific components listed below Quantitative analysis of keratan and chondroitin sulfate (uKS, uCS) can be used as a monitoring tool for patients with Morquio syndrome (MPS IV).

Turnaround Time

10 days

CPT Code(s)

83864 x2

Cost

$300.00


Enzymes

N-acetyl-galactosamine-6-sulfatase

Clinical Information

Morquio syndrome is characterized by short stature and trunk, large head, mildly coarse facies, widely spaced teeth, corneal clouding, a bell-shaped chest, vertebral anomalies, joint stiffness and kyphoscoliosis. Other features may include inguinal hernia, hepatomegaly and hearing loss. There is a wide spectrum of those affected ranging from mild to severe. Intelligence is typically not affected.

Indications

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, Urine Monitoring
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