Alberta Precision Laboratories

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Organization:

Alberta Precision Laboratories

Message Alert:

PLEASE NOTE: This Test Directory is in an interim state and due to changes pertaining to the DynaLIFE transition, performing site for routing has not been updated. Please refer to Laboratory Information System for appropriate routing.

Test Name/Synonym:

Sialic Acid, Total and Free, Urine (Synonyms: N-Acetylneuraminic Acid, NANA, Salla, Infantile Sialic Storage Disease, Sialidosis, Sialuria, ISSD, Mucolipidosis, ML I, ML II)

Clinical 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).

Ordering Alert:

This test is considered specialty testing; this test will be cancelled if sufficient clinical justification is not provided.

LABID (Connect Care):

LAB4038A

Test Code:

CALGARY ZONE	BGLNON; IN BGL NON-BLOOD TEST NAME FIELD ENTER SIALIC ACID
OTHER ZONES	NOT SPECIFIED

Specimen Type:

Urine

Primary Container:

Sterile container

Alternate Containers:

Non sterile container

Minimum Collection Volume:

0.5 mL

Specimen Collection Requirements:

First morning void is preferred.
Collect a 5.0 to 10.0 mL random urine specimen.

Test Resources:

Submit request using the applicable requisition or Connect Care online order entry:

Biochemical Genetics Laboratory Requisition

Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.

Stability and Storage:

Frozen

Processing:

This test requires creatinine determination for result reporting. For sites using EPIC, a separate aliquot should be removed at the time of initial specimen receipt and sent to the EPIC-designated lab for creatinine testing.

One aliquot with primary container, or two separate aliquots, can be submitted. Write “urine” on all secondary aliquot tubes. Freeze container and/or tubes.

Transportation:

Transport frozen specimens on dry ice.
Samples must not thaw during transport.

Method:

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

Method and Interpretation of Results:

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.

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 only)

Other causes of elevated Total, Free and/or Conjugated Sialic Acid

hemolytic uremic syndrome
pregnancy
type 2 diabetes mellitus
renal failure
bladder tumors

Routine Turn Around Time:

45 days

Testing Schedule:

Monthly

Reference Interval:

Age	Total Sialic Acid Normal Range	Free Sialic Acid Normal Range	Conjugated Sialic Acid Normal Range	Units
Less than 6 months	32 - 280	7 - 83	14 - 209	mmol/mmol creatinine
6 - 12 months	32 - 169	4 - 60	22 - 113	mmol/mmol creatinine
1 - 2 years	33 - 147	8 - 50	19 - 104	mmol/mmol creatinine
2 - 3 years	11 - 155	4 - 50	6 - 106	mmol/mmol creatinine
3 - 5 years	27 - 100	8 - 35	16 - 69	mmol/mmol creatinine
5 - 10 years	14 - 88	3 - 27	10 - 62	mmol/mmol creatinine
10 - 20 years	4 - 74	2 - 18	0 - 59	mmol/mmol creatinine
Over 20 years	6 - 56	2 - 13	0 - 49	mmol/mmol creatinine

Testing Area:

Biochemical Genetics

Performing Site:

Alberta Children’s Hospital

Additional Test Information:

For priority turn-around contact Biochemical Genetics South Laboratory.

Contact Comments:

Biochemical Genetics 403-955-7379

Last Updated On:

Monday, April 17, 2023

Date of Last Review:

Aug 1 2022 12:00AM