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Sialic acid is one of the small chemicals which is 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 blood, urine and solid tissue. The abnormalities of sialic
acid metabolism will almost always lead to both physical and
mental deterioration.
Sialic acid can be analyzed in cells cultured from solid tissue
such as skin, or can be measured in blood or urine.
Abnormalities of sialic acid metabolism may be suspected in infants
who:
- fail to grow
- regress in development
- have hepatosplenomegaly
- have coarsening of facial features
- have failure of pigmentation of
hair and skin
Specimen requirements: To rule out a sialic acid storage disorder,
urine (at least 10 ml) is the usual specimen. However, sialic
acid may be measured in other specimens (serum, cultured cells,
tissue samples).
Transport: Urine should be sent frozen on dry ice by courier
or 24 hour delivery service. Tissue specimens or cultured cells
should be sent at ambient temperature by courier or overnight
delivery.
Standard of Analysis: Total and free sialic acid is measured
by the barbituric acid method and results are compared with controls
run concurrently.
Time Required: Assays will be completed in one week.
Report: A report will include the total and free sialic
acid calculated in nanomoles sialic acid per mg creatinine (for
urine) and compared to control values with interpretation. Results
may be sent by FAX or email when requested.
CPT Code: 84275
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