Sialic Acid

Test description Sialic acid is a small chemical that serves as a component of a number of more complex chemical structures in the human body. A disturbance in a gene responsible for sialic acid metabolism may lead to an abnormality reflected in sialic acid concentration in urine. The abnormalities of sialic acid metabolism will almost always lead to both physical and mental deterioration.
Indications Abnormalities of sialic acid metabolism may be suspected in infants with failure to thrive, growth concerns, developmental regression, hepato-splenomegaly, coarsening facial features, and/or hair/skin pigmentation failure.
Methodology Total and free sialic acid is measured by the barbituric acid method and results are compared with controls run concurrently.
Specimen Requirements To rule out a sialic acid storage disorder, >10 ml of urine is required.
Transport Urine should be sent frozen on dry ice by courier or 24 hour delivery service.
Turnaround time 21 days
CPT Codes 84275
Cost $200
Contact For further information contact Kellie King, MS or Tim Wood, PhD at 1-800-473-9411

Biochemical Lab

The Biochemical Lab provides diagnostic and screening tests for a variety of inherited metabolic disorders.

Find out more