Sugars or combinations of sugar subunits (disaccharides, glycogen,
carbohydrates) are involved in many metabolic processes in the
body. Any abnormality in the genes that control carbohydrate
metabolism may lead to disturbances in growth and mental function.
Sugar analyses are usually performed on urine. Dysfunction of
carbohydrate or sugar metabolism should be considered in patients
with:
- cataracts
- hepatosplenomegaly
- jaundice
- feeding difficulties
- growth failure
- unexplained acidosis, developmental failure, seizures (less
common)
Specimen requirements: At
least 10 ml of a random catch sample of urine is needed for sugar
analysis. The laboratory should be contacted for assays involving other
specimens or involving galactosemia or glycogen storage diseases.
Transport: Urine samples must be frozen, preferably on dry ice.
Samples must be sent frozen by overnight delivery services or courier.
Standard of analysis: Qualitative analysis of sugars will be made
by thin-layer chromatography with positive and negative controls run
concurrently.
Time required: Sugar analysis will usually be completed within one
week.
Special requests: Any type of special request must be made directly
with the laboratory at the time the specimen is submitted.
Report: A written report will be sent, and when abnormalities
exist, a report will be made by telephone. Results may be sent by FAX or
email when requested.
CPT Code: 82489 |
