Mucopolysaccharides, Quantitative, Random, Urine (MPSQU)

Test Code: MPSQUSO

Overview
Ordering
Specimen
Performing
Clinical/Interpretive
Contacts
Coding

Synonyms/Keywords

Arylsulfatase B Deficiency, Beta-Galactosidase Deficiency, Beta-Glucoronidase Deficiency, Chondroitin-6-Sulfate, Dermatan Sulfate,
GAGS (Glycosaminoglycans), Galactose-6-Sulfatase Deficiency, Glycosaminoglycans (GAGS), Heparan Sulfate, Hunter Syndrome, Hurler Syndrome,
Hurler/Scheie Syndrome, Iduronate Sulfatase Deficiency, Iduronidase Deficiency, Keratan Sulfate, Maroteaux Lamy Syndrome, Morquio A, Morquio B, MPS, MPS I, MPS II, MPS III, MPS IVA, MPS IVB, MPS VI, MPS VII, Mucopolysaccharides, Multiple Sulfatase Deficiency, Sanfilippo Syndrome, Scheie Syndrome, Sly Syndrome

Useful For

Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI or VII.

ADVISORY INFORMATION: This test alone is not appropriate for the diagnosis of a specific mucopolysaccharidosis (MPS). Follow-up enzymatic testing must be performed to confirm a diagnosis of an MPS.

Specimen Requirements

Specimen Type	Preferred Container/Tube	Acceptable Container/Tube	Specimen Volume	Specimen Minimum Volume (allows for 1 repeat)	Pediatric Minimum Volume (no repeat)
Urine	Plastic, 5 mL urine tube		2 mL	1 mL	1 mL

Collection Processing Instructions

1. Patient's age is required.

2. Reason for referral is required.

3. DO NOT administer low-molecular weight heparin prior to collection.

4. Collect a random urine specimen (early morning preferred).

Specimen Stability Information

Specimen Type	Temperature	Time
Urine	Refrigerated (preferred)	90 days
	Frozen	365 days
	Ambient	7 days

Performing Laboratory Information

Performing Location	Day(s) Test Performed	Analytical Time	Methodology/Instrumentation
Mayo Clinic Laboratories	Varies	8-15 days	Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Reference Lab

Mayo Clinic Laboratories

Test Information

This test is used to aid in the diagnosis and monitoring of patients with mucopolysacchariodoses (MPS) types I, II, III, IV, VI, and VII.

Accumulation of undegraded glycosaminoglycans (GAGs) 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.

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

KS in urine is a marker for MPS IVA and MPS IVB.

C6S in urine is a marker for MPS IVA and MPS VII.

Reference Range Information

DERMATAN SULFATE

< or = 1.00 mg/mmol creatinine

HEPARAN SULFATE

< or =4 years: < or = 0.50 mg/mmol creatinine

> or =5 years: < or = 0.25 mg/mmol creatinine

CHONDROITIN-6 SULFATE

< or =24 months: < or = 10.00 mg/mmol creatinine

25 months-10 years: < or = 2.50 mg/mmol creatinine

> or =11 years: < or = 1.50 mg/mmol creatinine

KERATAN SULFATE

< or =12 months: < or = 2.00 mg/mmol creatinine

13-24 months: < or = 1.50 mg/mmol creatinine

25 months-4 years: < or = 1.00 mg/mmol creatinine

5-18 years: < or = 0.50 mg/mmol creatinine

> or =19 years: < or = 0.30 mg/mmol creatinine

Interpretation

Elevations of dermatan sulfate and/or heparan sulfate and/or keratan sulfate and/or chondroitin-6-sulfate may be indicative of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII.

Elevations of any or all sulfate species may be indicative of multiple sulfatase deficiency or mucolipidosisII/III.

Rarely, an elevation of keratan sulfate may be indicative of alpha-fucosidosis.

Outreach CPTs

CPT	Modifier (if needed)	Quantity	Description	Comments
83864		1
82570		1