Mucopolysaccharidosis III (MPS III), Sanfilippo Syndrome : Urine Monitoring (Total GAGs, HS)

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 heparan sulfate (uHS) can be used as a monitoring tool for patients with Sanfilippo syndrome (MPS III).

Turnaround Time

10 days

CPT Code(s)

83864 x2

Cost

$300


Enzymes

Heparan-N-sulfatase
N-acetyl-alpha-D-glucosaminidase
Acetyl CoA: glucosamine N acetyl transferase
N-acetyl glucosamine-6-sulfatase

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. Glycosaminoglycans are typically elevated in the urine of affected patents. 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.

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, Biochemical Testing, Urine Monitoring
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