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Test ID NBLD0129 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.

Secondary ID

606299

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

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

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

Sanford Laboratories - Sioux Falls/Rapid City Additional Information:

SANFORD LABORATORY INTERFACE BUILD INFORMATION

 Result Code     Result Code Description   
 13282  Mucopolysaccharides, QN, U   
 13283  Mucopolysaccharides, (MPS), QL