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:

Mucopolysaccharidosis (MPS) Investigation (Synonyms: Quantitative Mucopolysaccharides, GAGs, Glycosaminoglycan Electrophoresis, Uronic Acids)

Clinical Indications:

This test should ONLY be ordered when there is a strong clinical suspicion of a mucopolysaccharidosis in a patient, or when the initial Mucopolysaccharide (Glycosaminoglycan) Screen was found to be abnormal and there was insufficient sample for reflexive testing.

For initial screening of mucopolysaccharidoses order Mucopolysaccharide (Glycosaminoglycan) Screen.

For monitoring of known mucopolysaccharidosis patients order Quantitative Total GAGs (Monitoring).

Test Includes:

Uronic Acids, Quantitative and Glycosaminoglycan Electrophoresis, Qualitative

Ordering Alert:

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

Ensure a comprehensive indication for testing is provided.

LABID (Connect Care):

LAB12340

Test Code:

CALGARY ZONE	BGLNON; IN BGL TEST NAME FIELD ENTER URONIC ACIDS AND GAG
SOUTH ZONE (LETHBRIDGE)	UROAURR AND MUCSUR
SOUTH ZONE (MEDICINE HAT)	UROAURR1 AND GAGE
OTHER ZONES	NOT SPECIFIED

Specimen Type:

Urine

Primary Container:

Sterile container

Alternate Containers:

Non sterile container

Minimum Collection Volume:

4.0 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:

Uronic Acids, Quantitative – Spectrophotometric
Glycosaminoglycan, Qualitative - Electrophoresis

Method and Interpretation of Results:

Quantitative uronic acids are determined spectrophotometrically following precipitation with a cationic detergent, washing and detected using carbazole reagent. Qualitative glycosaminoglycan electrophoresis is performed using a discontinuous one-dimensional cellulose acetate electrophoresis.

Elevated uronic acids and the presence of abnormal glycosaminoglycans dermatan and/or heparan sufate, or keratan sulfate, in addition to the normal urine constituents chondroitin 4 and 6 sulfates, is highly suggestive of a biochemical diagnosis of a mucopolysaccharidosis. Further enzyme and/or molecular-based testing is required to confirm the specific enzyme deficiency in each case.

NOTE: Quantitative uronic acids does not detect the presence of keratan sulfate, as neither of its constituent subunits (i.e., galactose and N-acetylglucosamine) is a hexuronic acid. Therefore, patients with a strong clinical suspicion of Morquio syndrome may have normal uronic acid levels, but will have an abnormal glycosaminoglycan electrophoresis pattern.

Routine Turn Around Time:

Uronic Acids, Quantitative – 21 days
Glycosaminoglycan Electrophoresis, Qualitative – 45 days

Testing Schedule:

Uronic Acids, Quantitative – biweekly
Glycosaminoglycan Electrophoresis, Qualitative – monthly

Reference Interval:

Uronic Acids, Quantitative	Age	Normal Range	Units
	Less than 12 months	1.32 - 11.90	ug/mmol creatinine
	12 to 30 months	1.16 - 6.25	ug/mmol creatinine
	30 to 60 months	0.72 - 3.51	ug/mmol creatinine
	60 - 156 months	0.48 - 2.64	ug/mmol creatinine
	Over 156 months	0.22 - 2.22	ug/mmol creatinine


Glycosaminoglycan Electrophoresis, Qualitative		Interpretation will be provided on report.

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, October 17, 2022

Date of Last Review:

Aug 1 2022 12:00AM