Sialic Acid (CSF)


Test Details
TEST CODE NC07
TEST METHODOLOGY LC/MS/MS
TAT (TURNAROUND TIME) 10 - 14 days
CPT CODE 82017
PRICE $190
RECOMMENDED MNG KITS
  • CSF Collection Tubes (set of 5 tubes per kit)

Order Kit


Clinical Information
Clinical Significance CSF Sialic Acid (NC07) 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.
Relevant Diseases
  • Infantile Free Sialic Acid Storage Disease
  • Free Sialic Acid Storage Disorders
  • Salla Disease

Specimen Information
Acceptable Sample Types
  • Cerebrospinal Fluid (CSF)
Sample Preparation: Fill the tubes sequentially to the marked line Tube 1: 0.5 milliliter, Tube 2: 1.0 milliliter, Tube 3: 1.0 milliliter, Tube 4: 1.0 milliliter, Tube 5: 1.0 milliliter Without MNG CSF Collection Kit: Collect samples into 5 numbered 2.0 mL microcentrifuge tubes (or similar): Tube 1: 0.5 milliliter, Tube 2: 1.0 milliliter, Tube 3: 1.0 milliliter, Tube 4: 1.0 milliliter, Tube 5: 1.0 milliliter OR Collect entire sample into a single sterile tube, which is considered a pooled CSF sample. Neurotransmitter analysis may only be informative for certain disorders (NC04 analysis). Please contact the laboratory for more information.
Shipping Condition: Ship samples priority overnight on 3-4 lbs of dry ice. Sample must arrive in our lab Monday - Saturday. We do NOT accept Sunday or holiday deliveries.


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