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営業時間、予約なし診療およびご予約。NeuroSURE® Metabolites: Sialic Acid, Cerebrospinal Fluid (CSF)
CPT:
84275
Special Instructions
This assay currently is not available in New York state.
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This assay |
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This assay currently is not available in New York state. |
Expected Turnaround Time
10 - 14 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
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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