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HelpTest ID 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
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)
Special Instructions
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
Mucopolysaccharides Quant, USpecimen Type
UrineSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Refrigerated (preferred) | 90 days | |
| Frozen | 365 days | ||
| Ambient | 7 days |
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 daysPerforming 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
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MPSQU | Mucopolysaccharides Quant, U | 94691-3 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| BG716 | Reason for Referral | 42349-1 |
| 605986 | Dermatan Sulfate | 94692-1 |
| 605987 | Heparan Sulfate | 94693-9 |
| 605988 | Chondroitin-6 Sulfate | 94690-5 |
| 605989 | Keratan Sulfate | 92806-9 |
| 605990 | Interpretation | 59462-2 |
| 605985 | Reviewed By | 18771-6 |