Alpha-1-Antitrypsin Levels, Genotype, and Phenotype
Test Code
A1LGP
Description
Genotype: PCR-MALDI TOF Mass spectrometry for identification of alpha-1- antitrypsin variants.
Our genotyping test identifies the presence of 20 single nucleotide polymorphisms (SNPs) in the human SERPINA1 gene, including 19 mutations and the major normal allele (M).
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.
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
Performed
Genotype: Weekly
Levels: Monday-Friday
Methodology
Genotype: PCR-MALDI TOF Mass spectrometry for identification of alpha-1- antitrypsin variants from nucleic acid.
Levels: Turbidimetric
Phenotype: Electrophoresis and Nephelometry
Turnaround Time
Phenotype: 7-9 Business Days
Department
Immunology Lab - Diagnostic
Synonyms
AAT
Related Tests
AATPG, A1AT, A1ATG
Reference Interval
Genotype: M/M
Phenotype: M
Level:
| AGE | MALE / FEMALE (mg/dL) |
| NEWBORN-30 days | 124-348 |
| 31 days- 5 months | 111-297 |
| 6 months – 1 year | 95-251 |
| 2 – 19 | 110-279 |
| 20+ | 72-192 |
Interpretation
Genotype: Interpretation will reflect on the Final Report.
This genetic assay will detect the normal M allele and the following 19 mutations: S, Z, F, I,
Q0casablanca, Pittsburgh, Mheerlen, Mmalton, Mmineral springs, Mprocida, Plowell, Q0clayton,
Q0newport, Q0bellingham, Q0granite falls, Q0ludwigshafen, Q0mattawa, Q0west, Siiyama. This
assay does not rule out the existence of very rare mutations when an "M" result is reported.
CPT Code
Genotype: 81332
Levels: 82103
Phenotype: 82104