--- Query Results ---

  
Program:Genetics and Genomics
 
Test Name:Sialic Acid - Total & Free (G&G South ACH)
Test Code:SIALIC-U
Performing Site: Alberta Children's Hospital
Performing Dept:Biochemical Genetics
 
Availability:Test is performed on a monthly basis.
TAT:45 days
 
Preferred Tube/Container:Random specimen: plain urine container
 
Specimen Requirements:Collect 5-10 mL random urine sample.
 
Min. Sample Required:0.5 mL urine.
 
Specimen Processing:1. If specimen is transferred to secondary aliquot tube, write "urine" on label.
2. Freeze.
 
Specimen Handling:Transport frozen samples on ice. Samples must not thaw during transport.
 
Additional Information:Samples will be rejected if:
  • Aliquot tube received thawed
  • Sample type not written on aliquot tube label
  •  
    Requisition/Form:Submit request using Biochemical Genetics Laboratory Requisition.
    Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.
     
    Order Restrictions:This test is considered specialty testing; this test will be cancelled if sufficient clinical justification is not provided.
     
    Indications:For the investigation of neuraminidase deficiency (including galactosialidosis), lysosomal free sialic acid storage disorders and sialuria. This test may also be used in the investigation of I-cell disease (resulting from a functional neuraminidase deficiency).
    Method:Total and free sialic acid (i.e., measured with and without acid hydrolysis), and the conjugated fraction calculated, is determined using Liquid Chromatography, Electrospray-Ionization Tandem Mass Spectrometry (LC-MS/MS) with a deuterium-labelled internal standard.
    Method Details:Disorders detectable by elevated Total and Free Sialic Acid
  • lysosomal free sialic acid disorders (i.e., Salla disease, intermediate severe Salla disease, and infantile
         free sialic acid storage disease)
  • sialuria

    Disorders detectable by elevated Total and Conjugated Sialic Acid
  • sialidosis (a.k.a., neuraminidase deficiency)
  • galactosialidosis (a.k.a., cathepsin A deficiency)
  • I-cell disease (severe phenotype)

    Other causes of elevated Total, Free and/or Conjugated Sialic Acid
  • hemolytic uremic syndrome
  • pregnancy
  • type 2 diabetes mellitus
  • renal failure
  • bladder tumors
  •  
    Reference Interval:For Total Sialic Acid, Free Sialic Acid and Conjugated Sialic Acid

    Age    Total       Free       Conjugated                            Units
    < 6 months  32 – 280      7 – 83    14 – 209mmol/mol creatinine
    6 - 12 months    32 – 169      4 – 60    23 – 113mmol/mol creatinine
    1 – 2 years  33 – 147      8 – 50    19 – 104mmol/mol creatinine
    2 – 3 years  11 – 155      4 – 50      6 – 106mmol/mol creatinine
    3 – 5 years  27 – 100      8 – 35     16 – 69mmol/mol creatinine
    5 – 10 years   14 – 88      3 – 27     10 – 62mmol/mol creatinine
    10 – 20 years      4 – 74      2 – 18       0 – 59mmol/mol creatinine
    > 20 years    6 – 56      2 – 13       0 – 49mmol/mol creatinine
     
    Comments:Contact ACH Biochemical Genetics Laboratory (403-955-7379) for priority turn-around.
     
     
    Last Updated On:Friday, August 18, 2017
    Date of Last Review:Jan 2 2018 12:00AM