Mucopolysaccharidosis I & Mucopolysaccharidosis II (MPS I/II) : Urine Monitoring (Total GAGs, DS, 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 dermatan and heparan sulfate (uDS, uHS) can be used as a monitoring tool for patients with Hurler or Hunter syndrome (MPS I/II).

Turnaround Time

10 days

CPT Code(s)

83864 x2

Cost

$300

Indications

Quantitative total glycosaminoglycans can be used to monitor patients with any MPS disorder in combination with the specific components listed below. Quantitative analysis of dermatan and heparan sulfate (uDS, uHS) can be used as a monitoring tool for patients with Hurler or Hunter syndrome (MPS I/II).

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, dermatan sulfate (uDS) and heparan sulfate (uHS), 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
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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