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Test ID MPSER Mucopolysaccharides Quantitative, Serum


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.


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

Genetics Test Information

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.

Method Name

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

Reporting Name

Mucopolysaccharides Quant, S

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

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

Day(s) Performed

Twice per month

Report Available

9 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

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

NY State Approved

Yes

Testing Algorithm

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