A full lavender tube OR
A full EDTA or full heparin vacutainer OR
A full ACD solution A or ACD solution B vacutainer, or 2 mL whole blood aliquot from ACD-anticoagulant tube OR
Two buccal swabs OR
DNA extracted from any of the above specimens is acceptable if DNA yield is greater than 1 ng/mcL.
The extracted DNA must come from a CLIA validated laboratory.
Buccal Swab Collection: Swabs should be collected at least 20 minutes after eating by firmly scraping the swab 20 times against the inside of the subject’s cheek with a rolling action.
Sample received outside stability or at an incorrect temperature.
Samples may be shipped overnight at ambient temperature, refrigerated or frozen on dry ice.
Whole blood: No longer than 1 week at room temperature or no longer than 1 month at 2-8°C. Long-term storage must be at or below -20°C in a 24-hour monitored freezer.
Buccal swabs: Room temperature for up to 3 months or less than or equal to 8°C indefinitely.
DNA samples: Store no longer than 1 month at 2-8°C and long-term at or below -20°C in a 24-hour monitored freezer.
PCR-MALDI TOF Mass spectrometry for identification of alpha-1- antitrypsin variants from nucleic acid.
Immunology Lab - Diagnostic
Panel Test Code A1ATP (Level, Genotype, Phenotype as needed).
Interpretation will reflect on the Final Report.