Specimen Collection
Up to
30mL
urine may be required depending on concentration of sample. Random urine, no preservative. Please send complete sample. Dilute urine samples with a creatinine of < 1 mmol/L are not suitable (this may be a problem with samples from babies and young children).
A brief clinical history is essential.
Lab Note: Keep cool and freeze (-20
o
) if not sent to the laboratory within 4 hours.
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: 10%
Turnaround Time: 4 weeks
Test is available urgently if required contact laboratory on x22016 or via LabLink
Assay Method
Electrophoresis
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.
* CPC (cetyl pyridinium chloride) precipitation is used to separate out urinary mucopolysaccharides (or glycosaminoglycans) from other hexuronic acid containing interfering substances in the urine. The mucopolysaccharide output is related to the age of the patient.
* Electrophoresis is used to identify the excretion pattern.
Contact Information
For further information contact laboratory: ext 22016 or via Lablink
or, contact the Metabolic Physician-on-call: 09 367 0000