Sign in →

Order 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

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.

Testing Algorithm

For more information see the following:

-Lysosomal 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
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

Method Description

Dermatan sulfate (DS), heparin sulfate (HS), keratan sulfate (KS) and chondroitin-6-sulfate (C6S) are enzymatically digested from urine. The reaction mixture is centrifuged and analyzed by liquid chromatography tandem mass spectrometry (LC-MS/MS). The ratio of the extracted peak area of DS, HS, KS and C6S to internal standard as determined by LC-MS/MS is used to calculate the concentration of DS, HS, KS and C6S in the sample.(Unpublished Mayo method)

Day(s) Performed

Monday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83864

82570