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:

Alpha-Galactosidase, Plasma (Synonym: Anderson-Fabry Plasma, Fabry Plasma, Lysosomal Enzymes Panel)

Clinical Indications:

This test is for the investigation of Fabry disease in male patients based on clinical presentation.

Test Includes:

Total, percent heat resistant (i.e., %B) and ratio of %B/total alpha-galactosidase activities.

Ordering Alert:

Test Name Alert: This test is NOT for galactose-alpha-1,3-galactose (Alpha-Gal) Mammalian Meat Allergy testing (a.k.a., alpha-gal syndrome) and will be cancelled if ordered for this purpose.

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

Connect Care Users: Order Lysosomal Enzymes (LAB4043), then select the enzyme(s) to be tested. If ordering through Requisition Entry, order the individual enzyme.

LABID (Connect Care):

LAB4354

Test Code:

SOUTH ZONE

MISC

Specimen Type:

Blood

Primary Container:

Green top – Sodium heparin (no gel)

Alternate Containers:

Green top – Lithium heparin (no gel)

Minimum Collection Volume:

0.25 mL plasma

Specimen Collection Requirements:

Collect 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:

Frozen: plasma aliquot

Processing:

For ALL collection locations except for Alberta Children’s Hospital (ACH):
1. Centrifuge.
2. Transfer plasma to aliquot tube.
3. Write "NaHep" or "LiHep" on the aliquot tube label.
4. Freeze aliquot tube.

If collected at ACH outpatient Lab:

The primary tube 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.

Method:

Fluorometric

Method and Interpretation of Results:

Alpha-galactosidase activity is measured fluorometrically using a 4-methylumbelliferyl-linked substrate.

The measurement of plasma alpha-galactosidase A activity is not a recommended diagnostic test for Fabry disease in females. In addition to a reported 30% of affected female patients showing normal enzyme activity, the Biochemical Genetics laboratory has identified several female patients with modestly decreased enzyme activity that were not subsequently found to have a detectable GLA mutation. Recommend referral to either the ACH Inherited Metabolic Disorders Clinic or Stollery Children’s Hospital Metabolic Genetics Clinic for consultation and follow-up assessment, and/or GLA single gene testing.

Routine Turn Around Time:

14 days

Testing Schedule:

Biweekly

Reference Interval:

Enzyme Activity	Range	Units
alpha-Galactosidase Total Activity	3.8 - 8.1	nmol/hr/mL
alpha-Galactosidase B	13.5 - 33.8	%
Total Activity: % B	0.14 - 0.41	ratio

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 South 403-955-7379

Last Updated On:

Wednesday, September 27, 2023

Date of Last Review:

Aug 1 2022 12:00AM