Sign in →

Test Code MPSQU Mucopolysaccharides Quantitative, Random, Urine


Ordering Guidance


This test alone is not appropriate for the diagnosis of a specific mucopolysaccharidosis (MPS). Follow-up enzymatic or molecular genetic testing must be performed to confirm a diagnosis of an MPS.



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.



Specimen Required


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

Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

Container/Tube: Plastic, 5-mL urine tube

Specimen Volume: 2 mL

Pediatric Volume: 1 mL

Collection Instructions: Collect a random urine specimen (early morning preferred).


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.

Useful For

Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII

Testing Algorithm

For more information see the following:

-Lysosomal Storage Disorders Diagnostic Algorithm, Part 1

-Newborn Screening Follow up for Mucopolysaccharidosis type II

 

If the patient has abnormal newborn screening result for mucopolysaccharidosis type I, immediate action should be taken. Refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)

Method Name

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

Reporting Name

Mucopolysaccharides Quant, U

Specimen Type

Urine

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Urine Refrigerated (preferred) 90 days
  Frozen  365 days
  Ambient  7 days

Reference Values

DERMATAN SULFATE

≤1.00 mg/mmol creatinine

 

HEPARAN SULFATE

≤4 years: ≤0.50 mg/mmol creatinine

≥5 years: ≤0.25 mg/mmol creatinine

 

CHONDROITIN-6 SULFATE

≤24 months: ≤10.00 mg/mmol creatinine

25 months-10 years: ≤2.50 mg/mmol creatinine

≥11 years: ≤1.50 mg/mmol creatinine

 

KERATAN SULFATE

≤12 months: ≤2.00 mg/mmol creatinine

13-24 months: ≤1.50 mg/mmol creatinine

25 months-4 years: ≤1.00 mg/mmol creatinine

5-18 years: ≤0.50 mg/mmol creatinine

≥19 years: ≤0.30 mg/mmol creatinine

Interpretation

Elevations of dermatan sulfate, heparan sulfate, keratan sulfate, and/or chondroitin-6-sulfate may be indicative of one of the mucopolysaccharidoses types I, II, III, IV, VI, or VII.

 

Elevations of any or all sulfate species may be indicative of multiple sulfatase deficiency or mucolipidosis II/III.

 

Rarely, an elevation of keratan sulfate may be indicative of alpha-fucosidosis.

Clinical Reference

1. Newborn Screening ACT Sheet [alpha-L-iduronidase deficiency with or without glycosaminoglycan (GAG) accumulation] Mucopolysaccharidosis Type I (MPS I). American College of Medical Genetics and Genomics; 2023. Updated November 2023. Accessed June 10, 2024. Available at www.acmg.net/PDFLibrary/MPSI-ACT-Sheet.pdf

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. 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 November 29, 2023. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225544161

4. 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

5. Freeze HH. Genetic disorders of glycan degradation. In: Varki A, Cummings RD, Esko JD, et al, eds. Essentials of Glycobiology. 2nd ed. Cold Spring Harbor Laboratory Press; 2009. Accessed November 29, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1934/

Day(s) Performed

Monday

Report Available

8 to 15 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

83864

82570

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MPSQU Mucopolysaccharides Quant, U 94691-3

 

Result ID Test Result Name Result LOINC Value
BG716 Reason for Referral 42349-1
605986 Dermatan Sulfate 94692-1
605987 Heparan Sulfate 94693-9
605988 Chondroitin-6 Sulfate 94690-5
605989 Keratan Sulfate 92806-9
605990 Interpretation 59462-2
605985 Reviewed By 18771-6