Parkview Health Laboratory: Test Directory

Patient Preparation: Do not administer low-molecular weight heparin prior to collection

Specimen Requirements: 5.0 mL Urine in a Yellow Capped Tube or Plastic Container (No preservatives)

Collection Instructions: First Morning urine preferred

Patient Age required on order

Reason for referral is required on order

Patient Information sheet is Recommended

Minimum Volume: 2.0 mL Urine | 1.0 mL Urine (Pediatric)

Transport & Storage: Temperature/Stability: 7 days Ambient
90 days Refrigerated (preferred)
365 days Frozen

Reference Range:

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

Test Comments:

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

Methodology: Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

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

Documentation: 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.

Custom Panel: No

Turn Around Time: 8 to 15 days

Sites Performed: Mayo Laboratory

PHL Test Code: MSOT

EPIC Test Code: MISC

Send Out Test Code: MPSQU

Alternate Test Names: Arylsulfatase B Deficiency; Beta-Galactosidase Deficiency; Beta-Glucuronidase Deficiency; Chondroitin-6 sulfate; Chondroitin-6-sulfate; Dermatan Sulfate; GAGS; Galactose-6-Sulfatase Deficiency; Glycosaminoglycans; Glycosaminoglycans (GAGS); Heparan Sulfate; Hunter syndrome; Hurler syndrome; Hurler-Scheie syndrome; Iduronate Sulfatase Deficiency; Iduronidase Deficiency; Keratan Sulfate; Maroteaux Lamy syndrome; Maroteaux-Lamy syndrome; Morquio A; Morquio B; Mucopolysaccharides; Mucopolysaccharides Quantitative, Random, Urine; Mucopolysaccharidosis I (MPS I); Mucopolysaccharidosis II (MPS II); Mucopolysaccharidosis III (MPS III); Mucopolysaccharidosis IV (MPS IVA); Mucopolysaccharidosis IV (MPS IVB); Mucopolysaccharidosis VI (MPS VI); Mucopolysaccharidosis VII (MPS VII); Multiple sulfatase deficiency; Sanfilippo syndrome; Scheie syndrome; Sly syndrome

CPT Coding: 83864, 82570

Parkview Laboratory: Test Directory

Mucopolysaccharides Quantitative, Urine

PRODUCTION SCHEDULE