Laboratory Lab results are too important to go anywhere else.

Mucopolysaccharides Quantitative, Random, Urine

Glycosaminoglycans, MPS Screen, Mucopolysaccharides, Urine Quantitative

Test Codes

EPIC: LAB7900, Beaker: XMPQU, Mayo: MPSQU

Department

Send Outs

Specimen Collection Criteria

Collect: 2.0 mL random urine specimen in a screw-capped container (preferred) or other sterile urine container. An early morning (first void) specimen is preferred. (Minimum for pediatric: 1.0 mL)

Physician Office/Draw Specimen Preparation

Maintain refrigerated (2-8°C or 36-46°F) prior to transport.

Preparation for Courier Transport

Transport: 2.0 mL random urine specimen, refrigerated (2-8°C or 36-46°F). (Minimum for pediatric: 1.0 mL)

Rejection Criteria

Specimens not collected and processed as indicated.

In-Lab Processing

Maintain refrigerated (2-8°C or 36-46°F).

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 7 days
Refrigerated (2-8°C or 36-46°F): 90 days
Frozen (-20°C/-4°F or below): 365 days

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to Mayo Medical Laboratories, Rochester, MN.

Performed

Monday.
Results available in 8-15 days.

Reference Range

By report.

Test Methodology

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS).

Clinical Utility

This test is used to aid in the diagnosis and monitoring of patients with mucopolysacchariodoses (MPS) types I, II, III, IV, VI, and VII.

Accumulation of undegraded glycosaminoglycans (GAGs) leads to progressive cellular dysfunction and results in the typical clinical features seen with this group of disorders.

Dermatan sulfate (DS), heparan sulfate (HS), keratan sulfate (KS) and chondroitin-6-sulfate (C6S) are markers for a subset of MPS.

DS and HS in urine are markers for MPS types I, II, III, VI and VII. 

KS in urine is a marker for MPS IVA and MPS IVB. 

C6S in urine is a marker for MPS IVA and MPS VII.

Clinical Disease

The mucopolysaccharidoses are a group of disorders caused by the deficiency of any of the enzymes involved in the stepwise degradation of dermatan sulfate, heparan sulfate, keratan sulfate, or chondroitin-6-sulfate, which are collectively called glycosaminoglycans (GAGs). Undegraded or partially degraded GAGs are stored in lysosomes and excreted in the urine. Accumulation of GAGs in lysosomes interferes with normal functioning of cells, tissues, and organs resulting in the clinical features observed in mucopolysaccharidosis (MPS) disorders. There are 11 known enzyme deficiencies that result in the accumulation of mucopolysaccharides. In addition, abnormal glycosaminoglycan storage is observed in multiple sulfatase deficiency and in I-cell disease. Finally, abnormal excretion of GAGs in urine is observed occasionally in other disorders including active bone diseases, connective tissue disease, hypothyroidism, urinary dysfunction, and oligosaccharidoses.

CPT Codes

83864, 82570.

Contacts

Last Updated

10/8/2023