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Sialic Acid Analysis, Total and Free

Test Information

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

Disorders

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

barbituric acid

Specimen Requirements

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

Transport Instructions

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

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Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC