NeuroSURE® Metabolites: Sialic Acid, Cerebrospinal Fluid (CSF)

CPT: 84275

Special Instructions

This assay is not currently available in New York state.


Expected Turnaround Time

10 - 14 days


Specimen Requirements


Specimen

Cerebrospinal fluid (CSF)


Volume

1.0 mL


Minimum Volume

0.5 mL


Container

Sterile screw capped vial


Collection

Collect entire sample into a single sterile tube.


Storage Instructions

Freeze as soon as possible after collection.


Stability Requirements

Temperature

Period

Room temperature

Unstable (stability provided by manufacturer or literature reference)

Refrigerated

24 hours (stability provided by manufacturer or literature reference)

Frozen

-20°C = 72 hours; -80°C = Indefinite (stability provided by manufacturer or literature reference)

Freeze/thaw cycles

None (stability provided by manufacturer or literature reference)


Causes for Rejection

Bloody CSF; received thawed


Test Details


Use

CSF Sialic Acid is useful for diagnosing free sialic acid storage diseases. This testing may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing testing). Mutations in the SLC17A5 gene encoding the lysosomal transporter sialin are associated with the free sialic acid storage diseases (SASD): Salla disease (or the Finish type of sialuria), the more severe infantile free sialic acid storage disease (ISSD), and intermediate phenotypes with clinical findings of both Salla disease and ISSD. 1 SASD are characterized by the abnormal retention of free sialic acid in the lysosome (OMIM 604369 and 269920). Patients with SASD usually present with nystagmus, progressive cerebellar ataxia, spasticity, and severe psychomotor delay. Cerebellar ataxia may be the primary symptom. These symptoms are associated with diffuse supratentorial hypomyelination, thin corpus callosum, and cortical and cerebellar atrophy. In some patients, sialic acid increases are indentified only in CSF.


Limitations

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.


Methodology

Liquid chromatography/tandem mass spectrometry (LC/MS-MS)


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