Alberta Precision Laboratories

--- Query Results ---

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:

I-Cell Disease (Synonyms: Mucolipidosis, ML-II, Pseudo-Hurler Polydystrophy, ML-III)

Clinical Indications:

For the investigation of I-Cell disease or Pseudo-Hurler polydystrophy (a.k.a., UDP-N-acetylglucosamine-1-phosphotransferase deficiency) - a lysosomal storage disorder.

Test Includes:

Enzymes: alpha-galactosidase and hexosaminidase

Ordering Alert:

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

LABID (Connect Care):

LAB4025

Test Code:

CALGARY ZONE	BGLBL; IN BGL TEST NAME FIELD ENTER I-CELL
OTHER ZONES	NOT SPECIFIED

Specimen Type:

Blood

Primary Container:

Red Top – Non additive (no gel) and Green Top – Sodium heparin (no gel)

Alternate Containers:

Red Top – Non additive (no gel) and Green Top - Lithium Heparin (no gel)

Minimum Collection Volume:

0.25 plasma and 0.25 serum

Specimen Collection Requirements:

Collect one Non-additive and one Sodium Heparin (or alternate) tube.

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:

Refrigerated: whole blood specimens
Frozen: plasma and serum aliquots

Processing:

For ALL collection locations except for Alberta Children’s Hospital (ACH):
1. Centrifuge; allow red top tube to fully clot prior to centrifugation.
2. Transfer plasma and serum to separate aliquot tubes.
3. Write "NaHep", "LiHep" or "Red Top" on each aliquot tube label.
4. Freeze aliquot tubes.

If collected at ACH outpatient Lab:

The primary tubes can be put on ice (ensure not to freeze sample) or refrigerated for routine pick-ups between 08:30 to 14:30, Monday through Friday (excluding holidays).
If specimen is collected after 14:30, process sample as described above.

Transportation:

Transport frozen specimens on dry ice.
Samples must not thaw during transport.
Transport to Biochemical Genetics at Alberta Children’s Hospital.

Method:

Fluorometric

Method and Interpretation of Results:

Alpha-galactosidase and hexosaminidase activities are measured fluorometrically using 4-methylumbelliferyl-linked substrates.

Routine Turn Around Time:

30 days

Reference Interval:

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, September 19, 2022

Date of Last Review:

Aug 1 2022 12:00AM