Specimen Collection
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10mL Random (casual) urine samples, without preservative, stored at 2 to 8
0
C
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24-hour urine samples are not suitable
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Urines should be kept cold and frozen if not sent to the laboratory within 4 hours
External laboratories should store and transport frozen to avoid bacterial contamination
30 mL Urine (Random)
Reference Intervals
The reference interval will be provided with the result.
Glycosaminoglycan Screen (GAG/creatinine ratio)
Units: mg/mmol
Uncertainty of Measurement: 13-17%
Turnaround Time: 4 weeks
Test is available urgently if required contact laboratory on x22016 or via LabLink
Assay Method
Glycosaminoglycans screening test is performed using a colorimetric method.
A qualitative confirmatory test is performed using a liquid chromatography mass spectrometry method.
Diagnostic Use and Interpretation
The mucopolysaccharidoses are a group of inherited disorders of connective tissue metabolism characterised by the storage of sulphated mucopolysaccharides. The clinical features may include a unique coarse facial appearance, hirsutism, developmental delay and skeletal abnormalities. In addition and depending on the type of mucopolysaccharidosis, they may have varying degrees of organomegaly, mental retardation, corneal clouding and stiff joints.
The 14 types are classified according to the enzyme deficiency and clinical manifestations. The method targets specific glycosaminoglycan fragments that accumulate in urine to accurately identify mucopolysaccharide subtypes.
Contact Information
For further information contact laboratory: ext 22016 or via Lablink
or, contact the Metabolic Physician-on-call: 09 367 0000
Specimen Transport Instructions for Referring Laboratories
Keep cool and freeze (-20 C) if not sent to the laboratory within 4 hours.