Collect
Genotype: Full ACD solution A or ACD solution B vacutainer, or 2 mL whole blood aliquot from ACD-anticoagulant tube, at least 1 mL of aliquot frozen whole blood is required for testing. A full EDTA or full heparin vacutainer is also acceptable for testing. OR One buccal swab (Cat. No. Puritan 25-1506 1PF) collection is required, yet 2 buccal swabs are recommended to accommodate potential repeat testing. 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.
Levels: Collect in a plain red top or SST tube.
Phenotype: Collect in a plain red top or SST tube.
Specimen Preparation
Levels: Onsite [NJH]: Transport to lab within 1 hour.
Offsite: Separate serum from cells within 2 hours by centrifuge and aliquot into a labeled polypropylene or similar plastic tube.
Preferred volume: 1 mL serum
Phenotype: Onsite [NJH]: Transport to lab within 1 hour.
Offsite: Separate serum from cells within 2 hours by centrifuge and aliquot into a labeled polypropylene or similar plastic tube.
Preferred volume: 1 mL serum
Patient Prep
Genotype: 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.
Pediatric Collection
Levels: Minimum Volume: 0.1 mL serum
Phenotype: Minimum Volume: 0.5 mL serum
Unacceptable Conditions
Genotype: Sample received outside stability or at an incorrect temperature.
Levels: Gross Lipemia
Phenotype: Plasma, lipemic, grossly hemolyzed, microbially contaminated specimens, or specimens with visible particulates should not be used.
Storage Transport Temp
Genotype: Samples may be shipped overnight at ambient temperature, refrigerated or frozen on dry ice.
Levels: Send frozen serum Priority Overnight via FedEx and in a well insulated container on dry ice.
Phenotype: Send frozen serum Priority Overnight via FedEx and in a well insulated container on dry ice.
Stability
Genotype: 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 -20oC in a 24-hour monitored freezer.
Levels: Stability after cell separation:
8 hours at room temperature (15-25°C)
24 hours refrigerated at 2-8°C
>24 hours frozen at -20°C
Phenotype: Stability after cell separation:
8 hours at room temperature (15-25°C)
24 hours refrigerated at 2-8°C
>24 hours frozen at -20°C