Alpha-1 Antitrypsin serum level screening (step 1) and confirmatory genetic testing (step 2) in Ontario can be easily accessed.
Step 1: For serum protein level testing of Alpha-1 Antitrypsin, use the standard MOHLTC Laboratory Requisition. If the level is low (<1.13g/L) further confirmatory genetic testing for Deficiency alleles may be indicated*.
Step 2: For genetic testing for Deficiency alleles in the Alpha-1-SERPINA1 gene use the Trillium Health Partners Molecular Diagnostic Laboratory Requisition
Fill in Sections:
"Specimen Collection" (check box: "blood, 5-10 ml EDTA room temperature")
"COPD or Liver Disease"
Blood draw lab should send sample and completed form to address on requisition
The details of the testing algorithm set up by Trillium Health Partners Molecular Diagnostics Laboratory Requisition (Dr. Marsha Speevak) can be viewed here.
Questions related to genetic testing can be forwarded to the Genetics Laboratory at Credit Valley Hospital: (905) 813-1100 x6288, fax: (905) 813-3854
* A level below 20 μmol/L (113 mg/dL) will detect Pi*MZ, Pi*SZ, PI*MS and PI*SS with 92% sensitivity and 90% specificity.