Scroll back to top

Sialic Acid (CSF)

CPT: 84275
Print Share

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

Room Temperature: Not stable; Refrigerated: 24 hours; Frozen: 72 hours @ -20C, Indefinitely @ -80C; Freeze/Thaw: None

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). CLINICAL Mutations in the SLC17A5 gene encoding the lysosomal transporter sialin are associated with the free sialic acid storage diseases (SASD): Salla disease (or the Finnish 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 identified only in CSF.

Methodology

LC/MS/MS

Recommended MNG Kits

CSF Collection Tubes (set of 5 tubes per kit)

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
620036 Sialic Acid (CSF) 75046-3 620053 Sialic Acid Results 75046-3
620036 Sialic Acid (CSF) 75046-3 620055 Sialic Acid Interpretation N/A
620036 Sialic Acid (CSF) 75046-3 630881 PDF 80563-0