Test ID: MPSQN
Mucopolysaccharides (MPS), Quantitative, Urine
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Useful For Suggests clinical disorders or settings where the test may be helpful
Monitoring patients with mucopolysaccharidosis who have had bone marrow transplants or are receiving enzyme therapy
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Testing includes only quantitative mucopolysaccharides (MPS) analysis. Useful for monitoring patients with an established diagnosis. To establish a diagnosis, order MPSSC/84464 Mucopolysaccharides (MPS) Screen, Urine.
Method Name A short description of the method used to perform the test
Spectrophotometry (SP)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
Beta-Galactosidase Deficiency
Beta-Glucoronidase Deficiency
Chondroitin Sulfate
Dermatan Sulfate
GAGS (Glycosaminoglycans)
Galactose-6-Sulfatase Deficiency
Glycosaminoglycans (GAGS)
Heparan Sulfate
Hunter Syndrome
Hurler Syndrome
Hurler/Scheie Syndrome
Iduronate Sulfatase Deficiency
Iduronidase Deficiency
Keratan Sulfate
Lysosomal Storage
Lysosomal Storage Disease
Maroteaux Lamy Syndrome
Maroteaux-Lamy Syndrome
Morquio A
Morquio B
MPS I
MPS II
MPS III
MPS IVA
MPS IVB
MPS VI
MPS VII
Mucopolysaccharides
Multiple Sulfatase Deficiency
Sanfilippo Syndrome
Scheie Syndrome
Sly Syndrome
MSD (Maple Syrup Disease)
Berry Spot
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
Container/Tube: Plastic, 10-mL urine tube (Supply T068)
Specimen Volume: 10 mL
Collection Instructions:
1. Collect a random urine specimen (early morning preferred).
2. Immediately freeze specimen.
Additional Information: Patient's age is required.
Forms: If not ordering electronically, submit a Biochemical Genetics Request Form (Supply T439) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected
| Hemolysis | NA |
| Lipemia | NA |
| Icterus | NA |
| Other | NA |
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
| Specimen Type | Temperature | Time |
|---|---|---|
| Urine | Frozen | 21 days |
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
The mucopolysaccharidoses (MPSs) 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 sulfate (glycosaminoglycans; GAGs). Undegraded or partially degraded GAGs (also called mucopolysaccharides) 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 MPS disorders. There are 11 known enzyme deficiencies that result in MPSs. In addition, abnormal GAG storage is observed in multiple sulfatase deficiency and in I-cell disease. Finally, an abnormal excretion of GAGs in urine is observed occasionally in other disorders including active bone diseases, connective tissue disease, hypothyroidism, urinary dysfunction, and oligosaccharidoses.
MPSs are autosomal recessive disorders with the exception of MPS II, which follows an X-linked inheritance pattern. Affected individuals typically experience a period of normal growth and development followed by progressive disease involvement encompassing multiple systems. The severity and features vary, and may include facial coarsening, organomegaly, skeletal changes, cardiac abnormalities, and developmental delays. Moreover, disease presentation varies from as early as late infancy to adulthood. Additional information regarding individual disorders can be found under test MPSSC/84464 Mucopolysaccharides (MPS) Screen, Urine.
A diagnostic workup for individuals with suspected MPS begins with Mayo Medical Laboratories' test MPSSC/84464 Mucopolysaccharides (MPS) Screen, Urine, which includes both the quantitative analysis of total GAGs and thin layer chromatography (TLC). Interpretation is based upon pattern recognition of the specific sulfate(s) detected on TLC and the qualitative analysis of their relative amounts of excretion. However, an abnormal MPS analysis is not sufficient to conclusively establish a specific diagnosis. It is strongly recommended to seek confirmation by an independent method, typically in vitro enzyme assay (available in either blood or cultured fibroblasts from a skin biopsy) and/or molecular analysis.
After a specific diagnosis has been established, Mayo Medical Laboratories' test MPSQN/81473 Mucopolysaccharides (MPS), Quantitative, Urine, which does not include the TLC, can be appropriate for monitoring the effectiveness of a bone marrow transplant or enzyme replacement therapy. However, some clinicians will opt to perform the MPS screen, which allows for monitoring of not only the total amount of GAGs, but also the excretion of specific sulfates, as these may change in patients with an MPS disorder undergoing treatment.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
0-4 months: < or =53.0 mg/mmol creatinine
5-18 months: < or =31.0 mg/mmol creatinine
19 months-2 years: < or =24.0 mg/mmol creatinine
3-5 years: < or =16.0 mg/mmol creatinine
6-10 years: < or =12.0 mg/mmol creatinine
11-14 years: < or =10.0 mg/mmol creatinine
>14 years: < or =6.5 mg/mmol creatinine
Interpretation Provides information to assist in interpretation of the test results
An abnormally elevated excretion of glycosaminoglycan (GAG) is characteristic of mucopolysaccharidoses. GAG levels may normalize or remain elevated in patients who have undergone bone marrow transplants or are receiving enzyme replacement therapy.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Using this assay, a normal value for total glycosaminoglycan (GAG) can occasionally be obtained on a specimen that yielded a diagnostic thin-layer chromatography (TLC) pattern (ie, false negative). Conversely, an abnormal value for total GAG can occasionally be obtained on a specimen that yields a normal TLC pattern. This situation can occur as an artifact when a patient is treated with low-molecular-weight heparin. Other known causes are specimen contamination with acrylic polymers used in disposable diapers and several clinical situations associated with excessive connective tissue destruction, bladder disease, or bone disease.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
Neufeld EF, Muenzer J: The mucopolysaccharidoses. In The Metabolic and Molecular Bases of Inherited Disease. Eighth edition. Edited by CR Scriver, AL Beaudet, D Valle, et al. New York, McGraw-Hill Book Company, 2001, pp 3421-3452
Method Description Describes how the test is performed and provides a method-specific reference
Centrifuged urine is mixed with a dimethylmethylene blue (DMB)/Tris hydroxymethlyaminomethane (TRIS) solution. The metachromatic dye DMB binds with glycosaminoglycans and the complex formed changes the spectra of the dye. The pink color complex is measured at 520 nm.(deJong JG, Wevers RA, Liebrand-van Sambeek R: Measuring urinary glycosaminoglycans in the presence of protein; an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin Chem 1992;38:803-807; Panin G, Naia S, Dall'Amico R, et al: Simple spectrophotometric quantification of urinary excretion of glycosaminoglycan sulfates. Clin Chem 1986;32:2073-2076)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Monday through Friday; 12 p.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
83864
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
| Result ID | Reporting Name | LOINC Code |
|---|---|---|
| 81473 | Mucopolysaccharides (MPS), QN, U | 46132-7 |
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