Test Catalog

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 one of the 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.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

Mucopolysaccharides Quant, S

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

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.

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: Do not administer low-molecular weight heparin prior to collection.

Collection Container/Tube: Red top

Submission Container/Tube: Plastic vial

Specimen Volume: 0.5 mL

Pediatric: 0.2 mL

Collection Instructions: Centrifuge and aliquot serum into a plastic vial.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

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
Frozen 90 days
Ambient 14 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 one of the 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.

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 sulfate (glycosaminoglycans [GAG], also called mucopolysaccharides). 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.

 

MPS I is an autosomal recessive disorder caused by reduced or absent activity of the enzyme alpha-L-iduronidase due to mutations in the IDUA gene. This enzyme deficiency 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. MPS IH is the most severe and has an early onset consisting of skeletal deformities, coarse facial features, hepatosplenomegaly, macrocephaly, cardiomyopathy, hearing loss, macroglossia, and respiratory tract infections. Developmental delay is noticed as early as 12 months of age, and death usually occurs before 10 years of age when left untreated. MPS IH/S has an intermediate clinical presentation characterized by progressive skeletal symptoms called dysostosis multiplex. Individuals typically have little or no intellectual dysfunction. Corneal clouding, joint stiffness, deafness, and valvular heart disease can develop by early to mid-teens. Survival into adulthood is common. Comparatively, MPS IS presents with the mildest phenotype. The onset occurs after 5 years of age. It is characterized by normal intelligence and stature; however, affected individuals do experience joint involvement, visual impairment, and obstructive airway disease. The incidence of MPS I is approximately 1 in 100,000 live births. Treatment options include hematopoietic stem cell transplantation and enzyme replacement therapy.

 

MPS II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by a reduced or absent activity of the enzyme iduronate 2-sulfatase. The clinical features and severity of symptoms of MPS II are widely variable ranging from severe disease to an attenuated form, which generally presents later in life with a milder clinical presentation. In general, symptoms may include coarse facial features, 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 of the lack of corneal clouding in MPS II. Due to the X-linked inheritance pattern, MPS II is observed almost exclusively in male patients with an estimated incidence of 1 in 170,000 male births. Female patients who are symptomatic carriers are very rare but have been reported. Treatment options include hematopoietic stem cell transplantation and enzyme replacement therapy.

 

MPS 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. The collective incidence is approximately 1 in 58,000 live births. Treatment is limited to symptomatic management.

 

MPS IVA (Morquio A syndrome) is caused by a reduced or absent N-acetylgalactosamine-6-sulfate sulfatase. Clinical features and severity of symptoms of MPS IVA are widely variable but may include skeletal dysplasia, short stature, dental anomalies, corneal clouding, respiratory insufficiency, and cardiac disease. Intelligence is usually normal. Estimates of the incidence of MPS IVA syndrome range from 1 in 200,000 to 1 in 300,000 live births. Treatment with enzyme replacement therapy is available.

 

MPS IVB (Morquio B syndrome) is caused by a reduced or absent beta-galactosidase activity, which gives rise to the physical manifestations of the disease. Clinical features and severity of symptoms of MPS IVB 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, but no neurological involvement. The incidence of MPS IVB is estimated to be about 1 in 250,000 live births. Treatment options are limited to symptomatic management.

 

MPS VI (Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal storage disorder caused by the deficiency of the enzyme arylsulfatase B. Clinical features and severity of symptoms are widely variable but typically include short stature, dysostosis multiplex, facial dysmorphism, stiff joints, claw-hand deformities, carpal tunnel syndrome, hepatosplenomegaly, corneal clouding, and cardiac defects. Intelligence is usually normal. Rapidly progressing forms have an early onset of symptoms, significantly elevated GAG especially dermatan sulfate, and can lead to death before the second or third decade of life. A more slowly progressing form has a later onset, milder skeletal manifestations, smaller elevations of GAG, and typically a longer lifespan. Estimates of the incidence of MPS VI range from 1 in 250,000 to 1 in 300,000. Treatment options include hematopoietic stem cell transplantation and enzyme replacement therapy.

 

MPS VII (Sly syndrome) is caused by a deficiency of the enzyme beta-glucuronidase and is extremely rare. 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 enzyme replacement therapy.

 

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

 

TOTAL KERATAN SULFATE

< 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.

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 Dec;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 Mar;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 Dec 15;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 September 2, 2022. https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=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 May 29;16(1):241

Special Instructions
Library of PDFs including pertinent information and forms related to the test

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

No

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.

9 to 15 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

1 month

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

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 Regional Manager. 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. This test 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.

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

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports