Sign in →

Test Code U Oligosa Oligosaccharides, Urine

Clinical System Name

Oligosaccharides, Urine

Description

Thin layer chromatography of urine with orcinol staining.

 

Sample Requirements

Specimen: Urine

Container(s): Sterile Screw-Capped Countainer/Tube,

Preferred Vol:  10.0 mL

Minimum Vol: 5.0 mL

 

Note:  A random urine sample is adequate; 24 hour collection is not required.

 

Processing Instructions

Reject due to:

Spin:N

Aliquot:Y

Temp:-20 C

Storage location: -20 C BCG  Box

 

Off-site collection: Freeze sample immediately, ship frozen.

Stability

Temperature Time
Room temp 1 wk
Refrigerated 1 wk
Frozen 1 mo

 

Availability

STAT Performed TAT
N Weekly 7-14 day

 

Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.

Performing Laboratory

Seattle Children's Laboratory    

Department

Department:  Biochemical Genetics

Phone Number: 206-987-2216

 

 

Methodology

Method: Thin layer chromatography

Analytical Volume: None specified

Limitations:

CPT Codes

84376

Requisition

Biochemical Genetics Requisition

 

Method is affected by patient's diet and medication.  Please include clinical information needed for appropriate interpretation.  (Age, gender, diet (e.g. TPN therapy), drug therapy and family history)

Clinical Utility

Oligosaccharides are low molecular weight carbohydrate chains composed of at least three monosaccharide subunits that may be covalently coupled to a protein moiety (glycoproteins). A number of oligosaccharides are present in normal human urine, however,  excretion of these compounds is low. The degradation of glycoproteins is thought to be primarily lysosomal. Deficiency of a lysosomal enzyme required for glycoprotein catabolism leads to the accumulation of undegraded material and symptoms of a storage disorder.

These disorders are variable in severity and symptoms but all are neurodegenerative, progressive and can involve many organ systems.

Examples of glycoprotein storage diseases are: mannosidoses (alpha and beta), fucosidosis, galactosialidosis, aspartylglucosaminuria, Schindler disease, mucolipidosis I, II, III, and GM1 gangliosidosis.

 

In neonates, there may be excess bands, which are most likely milk oligosaccharides from breast milk or milk fortified with glucose polymers. Repeat testing is recommended at 6 months of age.

This test is a screen and presumptive diagnoses need to be confirmed by enzyme assay.

Reference Ranges

Interpretation accompanies report.