Sialic Acid Analysis, Total and Free

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. Elevated free sialic acid in urine is associated with infantile sialic acid storage disease and Salla disease.

Turnaround Time

3 weeks

CPT Code(s)

84275

Cost

$200

• Salla disease
• Sialuria

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.

barbituric acid

To rule out a sialic acid storage disorder, >10 ml of urine is required.

Urine should be sent frozen on dry ice by courier or 24 hour delivery service.