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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).


Genetics Test Information

This test is used to aid in the diagnosis 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), keratan sulfate (KS) and chondroitin-6-sulfate (C6S) are markers for a subset of MPS.

 

In urine: 

-DS and HS are markers for MPS types I, II, III, VI and VII.

-KS is a marker for MPS IVA and MPS IVB.

-C6S is a marker for MPS IVA and MPS VII.

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

Reject Due To

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

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

Day(s) Performed

Monday

Report Available

8 to 15 days

Specimen Retention Time

1 month

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83864

82570