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
Kellie Walden, MS, CGC

Analyte Analysis, Analytes and Biomarkers, Biochemical Testing
Meet Makayla Gunn

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two.   At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.  Then she suddenly stopped all of that.  At her 2 year old check-up, the pediatrician referred us to BabyNet, ...

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