Sialic Acid Analysis

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

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.

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

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis and guide her care. Dr. Champaigne and Ami...

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