Alpha-Galactosidase, Dried Blood Spot (Referred Out)- Saskatoon
Discipline
Biochemistry
Overview
Description
- All required information on the consent form must be filled out:
- Physician must sign confirmation of informed and medical necessity for genetic testing
- Patient must sign the consent before blood collection.
- Please note that an incomplete form will result in cancellation of the test.
- Please download the Lysosomal Storage Disorders Testing Program Consent for Enzymatic and Genetic Testing form and the Lysosomal Storage Disorders Testing Program: Requisition and Consent form from the link in TEST ORDERING REQUIREMENTS (BELOW).
- For female patients, genetic analysis will be conducted directly because the female carriers may have normal enzyme activity.
Test Ordering Requirements
Forms required
- Requisitions must have specific test indicated
Alias
- Fabry’s disease
- GLA Deficiency
Specimen Information
Specimen types accepted
- Whole blood
Specimen collection container
- Preferred collection container: Lavender (EDTA) 4 mL
Required volume
- Optimal volume: 4 mL whole blood
- Minimum/pediatric volume: 1 mL whole blood
Transport and stability
- Whole blood must be received within 24 hours of collection
- Store whole blood at room temperature
- The Lysosomal Storage Disorder Card should be spotted when whole blood received in the lab
- Lysosomal Storage Disorder Card should be spotted with whole blood within 24 hours of collection
- Once spotted, the Lysosomal Storage Disorder Card should be allowed to dry for 3-4 hours and shipped to referral laboratory at ambient temperature
Rejection criteria
- Specimens received where the proper collection protocols were not followed
- Pathology and Laboratory Medicine Acceptance and Rejection Criteria
Testing Information
Relevant clinical history
- Family history
- Must include diagnosis and/or patient symptoms on the requisition
Clinical interpretation
- Results should be interpreted in the context of clinical findings, patient history and other laboratory data
Performance
Methodology
- Tandem mass spectrometry
Days/times performed
- Referred out by St. Paul’s Hospital Laboratory to PerkinElmer, Pittsburgh, PA
Maximum laboratory time
- 3 week turnaround time by referral laboratory
Other information
Additional Comments
- Aids to diagnose Fabry disease. Alpha-galactosidase enzyme activity will be tested. For female patients, genetic analysis will be conducted directly as the female carriers may have normal enzyme activity.
- Fabry disease is an X-linked inherited disorder caused by mutations in the GLA gene encoded for alpha-galactosidase A. This enzyme breaks down a fatty substance called globotriaosylceramide. Deficiency of alpha-galactosidase will lead to accumulation of globotriaosylceramide.
Last Updated: October 3, 2024