Test Id : MPSER
Mucopolysaccharides Quantitative, Serum
Useful For
Suggests clinical disorders or settings where the test may be helpful
Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, VI, or VII
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test provides diagnostic testing and monitoring of patients with mucopolysaccharidoses (MPS) types I, II, III, IV, VI, and VII.
Accumulation of undegraded glycosaminoglycans (GAG; also known as mucopolysaccharides) leads to progressive cellular dysfunction and results in the typical clinical features seen with this group of disorders.
Dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS) are markers for a subset of MPS.
Testing for DS and HS in serum can aid in the diagnosis of MPS types I, II, III, VI, and VII.
Testing for KS in serum can aid in the diagnosis of MPS IVA and MPS IVB.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Newborn Screening Follow up for Mucopolysaccharidosis type II
Method Name
A short description of the method used to perform the test
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Arylsulfatase B Deficiency
Beta-Galactosidase Deficiency
Beta-Glucuronidase Deficiency
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
Maroteaux Lamy syndrome
Maroteaux-Lamy syndrome
Morquio A
Morquio B
Mucopolysaccharides
Mucopolysaccharidosis I (MPS I)
Mucopolysaccharidosis II (MPS II)
Mucopolysaccharidosis III (MPS III)
Mucopolysaccharidosis IV (MPS IVA)
Mucopolysaccharidosis IV (MPS IVB)
Mucopolysaccharidosis VI (MPS VI)
Mucopolysaccharidosis VII (MPS VII)
Sanfilippo syndrome
Scheie syndrome
Sly syndrome
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Newborn Screening Follow up for Mucopolysaccharidosis type II
Specimen Type
Describes the specimen type validated for testing
Serum Red
Ordering Guidance
This test alone is not diagnostic for a specific mucopolysaccharidosis. Follow-up testing must be performed to confirm a diagnosis.
Necessary Information
1. Patient's age is required.
2. Reason for testing is required.
3. Biochemical Genetics Patient Information (T602) is recommended. This information aids in providing a more thorough interpretation of results. Send information with specimen.
ORDER QUESTIONS AND ANSWERS
| Question ID | Description | Answers |
|---|---|---|
| BG714 | Reason for Referral |
Rule out Mucopolysaccharidoses Follow up of abnormal newborn screening Known patient on treatment Known GM1 patient Known MPS I patient Known MPS II patient Known MPS III patient Known MPS IVA patient Known MPS IVB patient Known MPS VI patient Known MPS VII patient Known MSD patient Known Fucosidosis patient Not Provided |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Patient Preparation: For 6 hours before specimen collection, patient should not receive heparin.
Supplies: Sarstedt Aliquot Tube, 5 mL (T914)
Collection Container/Tube: Red top
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Pediatric: 0.2 mL
Collection Instructions:
1. Do not collect specimen from a line that may have been used to infuse heparin or has been flushed with heparin.
2. Centrifuge and aliquot serum into a plastic vial.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
0.2 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Gross hemolysis | OK |
| Gross lipemia | OK |
| Gross icterus | OK |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Serum Red | Refrigerated (preferred) | 90 days | |
| Ambient | 14 days | ||
| Frozen | 90 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, VI, or VII
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test provides diagnostic testing and monitoring of patients with mucopolysaccharidoses (MPS) types I, II, III, IV, VI, and VII.
Accumulation of undegraded glycosaminoglycans (GAG; also known as mucopolysaccharides) leads to progressive cellular dysfunction and results in the typical clinical features seen with this group of disorders.
Dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS) are markers for a subset of MPS.
Testing for DS and HS in serum can aid in the diagnosis of MPS types I, II, III, VI, and VII.
Testing for KS in serum can aid in the diagnosis of MPS IVA and MPS IVB.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
For more information see Newborn Screening Follow up for Mucopolysaccharidosis type II
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
The mucopolysaccharidoses are a group of disorders caused by a deficiency of any of the enzymes involved in the stepwise degradation of dermatan sulfate, heparan sulfate, keratan sulfate, or chondroitin-6- sulfate, collectively called glycosaminoglycans (GAG). Undegraded or partially degraded GAG are stored in lysosomes and excreted in the urine. Accumulation of GAG in lysosomes interferes with normal functioning of cells, tissues, and organs resulting in the clinical features observed in mucopolysaccharidosis (MPS) disorders. Depending on the extent of the enzyme deficiency and type of accumulating storage material, MPS patients may present with a variety of clinical findings that can include coarse facial features, cardiac abnormalities, organomegaly, intellectual disabilities, short stature, and skeletal abnormalities.
Mucopolysaccharidosis I is an autosomal recessive disorder caused by reduced or absent activity of the enzyme alpha-L-iduronidase due to disease-causing variants in the IDUA gene. MPS I results in a wide range of clinical phenotypes that are further categorized as MPS IH (Hurler syndrome), MPS IS (Scheie syndrome), and MPS IH/S (Hurler-Scheie syndrome), which are not typically distinguishable via biochemical methods. Clinically, they are also referred to as MPS I and attenuated MPS I. Clinical features and severity of symptoms of MPS I are variable, ranging from severe disease to an attenuated form that generally presents at a later onset with a milder clinical presentation. In general, symptoms may include coarse facies, progressive dysostosis multiplex, hepatosplenomegaly, corneal clouding, hearing loss, intellectual disabilities or learning difficulties, and cardiac valvular disease. Treatment options include hematopoietic stem cell transplantation and enzyme replacement therapy (ERT).
Mucopolysaccharidosis II (Hunter syndrome) is caused by a reduced or absent activity of the enzyme iduronate 2-sulfatase due to disease-causing variants in the IDS gene. The clinical features and severity of symptoms of MPS II are widely variable ranging from severe disease to an attenuated form, which generally presents at a later onset with a milder clinical presentation. In general, symptoms may include coarse facies, short stature, enlarged liver and spleen, hoarse voice, stiff joints, cardiac disease, and profound neurologic involvement leading to developmental delays and regression. The clinical presentation of MPS II is similar to that of MPS I with the notable difference in the lack of corneal clouding in MPS II. The inheritance pattern is X-linked and as such MPS II is observed almost exclusively in male patients, although symptomatic females have been reported. Treatment options include hematopoietic stem cell transplantation and ERT.
Mucopolysaccharidosis III (Sanfilippo syndrome) is caused by a reduced or absent activity of any 1 of 4 enzymes involved in heparan sulfate degradation. Patients with MPS III uniformly excrete heparan sulfate resulting in similar clinical phenotypes and are further classified as type A, B, C, or D based upon the specific enzyme deficiency. MPS III is characterized by severe central nervous system (CNS) degeneration but only mild physical disease. Such disproportionate involvement of the CNS is unique among the MPS. Onset of clinical features, most commonly behavioral problems and delayed development, usually occurs between 2 and 6 years in a child who previously appeared normal. Severe neurologic degeneration occurs in most patients by 6 to 10 years of age accompanied by a rapid deterioration of social and adaptive skills. Death generally occurs by the third decade of life (20s). The occurrence of MPS III varies by subtype with types A and B being the most common and types C and D being very rare. Treatment is limited to symptomatic management.
Mucopolysaccharidosis IVA (Morquio A syndrome) is caused by a reduced or absent N-acetylgalactosamine-6-sulfate sulfatase due to disease-causing variants in the GALNS gene. Clinical features and severity of symptoms of MPS IVA are variable but may include skeletal dysplasia, short stature, dental anomalies, corneal clouding, respiratory insufficiency, cardiac disease, and no neurologic involvement. Treatment with ERT is available.
Mucopolysaccharidosis IVB (Morquio B syndrome) is caused by a reduced or absent beta-galactosidase activity due to disease-causing variants in the GLB1 gene. Clinical features and severity of symptoms of MPS IVB are variable ranging from severe disease to an attenuated form, which generally presents at a later onset with a milder clinical presentation. In general, symptoms may include coarse facies, short stature, enlarged liver and spleen, hoarse voice, stiff joints, cardiac disease, but no neurological involvement. Treatment options are limited to symptomatic management.
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is caused by the deficiency of the enzyme arylsulfatase B due to disease-causing variants in the ARSB gene. Clinical features and severity of symptoms are variable and typically include short stature, dysostosis multiplex, facial dysmorphism, stiff joints, claw-hand deformities, carpal tunnel syndrome, hepatosplenomegaly, corneal clouding, cardiac defects, and no neurological involvement. Treatment options include hematopoietic stem cell transplantation and ERT.
Mucopolysaccharidosis VII (Sly syndrome) is caused by a deficiency of the enzyme beta-glucuronidase due to disease-causing variants in the GUSB gene. The phenotype varies significantly from mild to severe presentations and may include macrocephaly, short stature, dysostosis multiplex, hepatomegaly, coarse facies, and impairment of cognitive function. Likewise, the age of onset is variable ranging from prenatal to adulthood. Treatment options include hematopoietic stem cell transplantation and ERT.
Elevations of dermatan sulfate and/or heparan sulfate are seen MPS types I, II, III, VI, and VII.
Elevations of keratan sulfate are seen in MPS types IVA and IVB.
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.
DERMATAN SULFATE
< or =300.00 ng/mL
HEPARAN SULFATE
< or =55.00 ng/mL
< or =5 years: < or =1800.00 ng/mL
6-18 years: < or =1500.00 ng/mL
> or =19 years: < or =1200.00 ng/mL
Interpretation
Provides information to assist in interpretation of the test results
Elevations of dermatan sulfate, heparan sulfate, and/or keratan sulfate may be indicative of one of the mucopolysaccharidoses types I, II, III, IV, VI, or VII.
Elevations of all three sulfate species may be indicative of multiple sulfatase deficiency.
Rarely, an elevation of keratan sulfate may be indicative of alpha-fucosidosis.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
A normal total keratan sulfate result does not exclude a diagnosis of mucopolysaccharidoses IVA.
Administration of heparin before specimen collection may interfere with this assay and results should be interpreted with caution.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. de Ruijter J, de Ru MH, Wagemans T, et al. Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. Mol Genet Metab. 2012;107(4):705-710
2. de Ru MH, van der Tol L, van Vlies N, et al. Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans. J Inherit Metab Dis. 2013;36(2):247-255
3. Osago H, Shibata T, Hara N, et al. Quantitative analysis of glycosaminoglycans, chondroitin/dermatan sulfate, hyaluronic acid, heparan sulfate, and keratan sulfate by liquid chromatography-electrospray ionization-tandem mass spectrometry. Anal Biochem. 2014;467:62-74
4. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed May 23, 2025. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709§ionid=225544161
5. Puckett Y, Mallorga-Hernandez A, Montano AM. Epidemiology of mucopolysaccharidoses (MPS) in the United States: challenges and opportunities. Orphanet J Rare Dis. 2021;16(1):241
Method Description
Describes how the test is performed and provides a method-specific reference
Serum specimens are diluted and dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS) are enzymatically digested. The reaction mixture is centrifuged and analyzed by liquid chromatography tandem mass spectrometry (LC-MS/MS). The ratio of the extracted peak area of DS, HS, and KS to internal standard as determined by LC-MS/MS is used to calculate the concentration of DS and HS in the sample.(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Twice per month
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
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
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
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 instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.
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 Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
83864
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| MPSER | Mucopolysaccharides Quant, S | 93726-8 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| BG714 | Reason for Referral | 42349-1 |
| 604908 | Dermatan Sulfate | 2203-8 |
| 604909 | Heparan Sulfate | 93725-0 |
| 604910 | Total Keratan Sulfate | 93724-3 |
| 604911 | Interpretation (MPSER) | 59462-2 |
| 604907 | Reviewed By | 18771-6 |