Urinary GAG Electrophoresis (Mucopolysaccharide Disorders - includes GAGs quantitation and 2D electrophoresis)

Test Code:

BC6090

Synonym(s):

Specimen Container

Wide mouth sterile container

Specimen Requirement

Urine
5 mL - 10 mL

Specimen Storage / Transport

Fresh urine, free from bacterial contamination and no preservative. Please send with a separate ice pack.

Method

Orderable as STAT?

Turn Around Time

3 weeks

Reference Value(s)

Testing Laboratory Location

KKH

Laboratory

Biochemical Genetics lab

Contact Number

6394 8728

Day and Time Performed

Mon – Fri: 0900 hrs – 1800 hrs
Last specimen reciept time is at 1730 hrs.

Orderable on CPOE?

Yes

Downtime Form

Biochemical Genetics Lab

Additional Information

Useful For	Screening of mucopolysaccharide disorders (MPS). Testing includes low voltage electrophoresis in two dimensions on cellulose acetate sheets followed by a staining process with Alcian Blue. Mucopolysaccharidoses (MPS) are a group of inherited diseases which are characterized by a progressive accumulation of partially degraded glycosaminoglycans (GAGs) in the lysosomes.
Clinical Indication	skeletal deformities hepatomegaly Hernia learning difficulties behavioural disturbance and severe bone dysplasia
Interpretation	Interpretation is based on the overall pattern of the electrophoresis profile. Diagnosis would need to be confirmed by enzyme or DNA analysis.

For URGENT analysis, contact the Biochemical Genetics laboratory at 6394 8728 or the Lead Scientist at 8388 8741 to discuss.

If sent after office hours, urine will be stored in Clinical Laboratory -20°C freezer.