Salla disease\, Sialuria
Sialic Acid Analysis, Total and Free
Sialic Acid Analysis, Total and Free
This test measures free sialic acid in urine. Sialic acid is a small chemical that serves as a component of various complex structures in the human body. A disturbance in a gene responsible for sialic acid metabolism can lead to elevated sialic acid concentrations in urine, which is associated with infantile sialic acid storage disease and Salla disease.
Clinical Information
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. Elevated free sialic acid in urine is associated with infantile sialic acid storage disease and Salla disease.
Technical Information
High performance liquid chromatography (HPLC)
Specimen Requirements
Urine: A minimum of 2 mL random catch urine
Transport Instructions
Urine: Specimen should be frozen after collection and shipped frozen, preferably on dry ice
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC