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Beta-Glucosidase, 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).

Test Ordering Requirements

Forms required 

Alias

  • Gaucher’s Disease

  • GBA deficiency

  • Glucocerebrosidase

  • Acid beta-glucosidase

Specimen Information

Specimen types accepted

  • Whole blood

  • Dried blood spots are made when specimen received in the lab.

Specimen collection container

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

  • Lysosomal Storage Disorder Card should be spotted with whole blood within 24 hours of collection.

  • Once spotted, the Lysosomal Storage Disorder Card should be stored at -20°C or below if held for greater than 48 hours.

Rejection criteria

Testing Information

Relevant clinical history

  • Family history

  • Must include diagnosis and/or patient symptoms on the requisition

Clinical interpretation

  • Result interpretation should be correlated with clinical and other laboratory findings

Performance

Methodology

  • Tandem mass spectrometry

Days/times performed

Testing Site​

  •  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

    • This test can be used to aid in the diagnosis of Gaucher’s disease (GD).

    • GD is another highly variable lysosomal storage disorder, and it has been divided into five subgroups: Type I, TYPE II, TYPE III, perinatal-lethal and cardiovascular. GD type I is the most common type. Patients typically present with anemia, thrombocytopenia, hepatosplenomegaly, fatigue, pulmonary disease, and bony problems (osteoporosis, lytic lesions and avascular necrosis). Patients usually do not have neurologic abnormalities, and cognitive function is not affected.

    • All forms of GD are caused by mutations in the GBA gene, which encodes beta glucosidase, the enzyme breaking down glucosylcerebroside. The enzyme deficiency leads to accumulation of glycosylcerebroside affecting mononuclear phagocytosis and resulting in the presence of “Gaucher cells”.

    Last Updated: October 4, 2024