Hurler/Hunter Syndrome (MPS I/II): Urine Monitoring (Total GAGs, DS, HS)

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

• Hurler Syndrome (MPS I)
• Hunter Syndrome (MPS II)

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).

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.

• Hurler Syndrome (MPS I): Alpha-iduronidase Enzyme Analysis
• Hurler Syndrome (MPS I): IDUA Sequencing
• Hunter Syndrome (MPS II): Iduronate-2-Sulfatase Enzyme Analysis
• Hunter Syndrome (MPS II): IDS Deletion/Duplication MLPA
• Mucopolysaccharidosis (MPS) Urine Analysis (Total GAGs, DS, CS, KS, HS)
• Mucopolysaccharidosis (MPS) Enzyme Panel
• Mucopolysaccharidosis (MPS) Enzyme Panel (DBS)

At least 3 ml of a random catch sample of urine is needed for MPS urine monitoring.

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