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Test Code MPSER Mucopolysaccharides Quantitative, Serum

Reporting Name

Mucopolysaccharides Quant, S

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

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

Method Name

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


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.



Specimen Required


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.


Specimen Type

Serum Red

Specimen Minimum Volume

0.2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Serum Red Refrigerated (preferred) 90 days
  Frozen  90 days
  Ambient  14 days

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Reference Values

DERMATAN SULFATE

≤300.00 ng/mL

 

HEPARAN SULFATE

≤55.00 ng/mL

 

TOTAL KERATAN SULFATE

≤5 years: ≤1800.00 ng/mL

6-18 years: ≤1500.00 ng/mL

≥19 years: ≤1200.00 ng/mL

Interpretation

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.

Day(s) Performed

Twice per month

Report Available

9 to 15 days

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

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MPSER Mucopolysaccharides Quant, S 93726-8

 

Result ID Test Result Name Result LOINC Value
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

Testing Algorithm

For more information see Newborn Screening Follow up for Mucopolysaccharidosis type II