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- Alpha1-Antitrypsin Deficiency
Test Includes
α1-Antitrypsin, DNA analysis; α1-antitrypsin, serum; reflex to phenotype
Expected Turnaround Time
6 - 12 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Specimen Requirements
Specimen
Serum and whole blood
Volume
3 mL serum (1.5 mL in each of two tubes) and 7 mL whole blood
Minimum Volume
1.2 mL serum (0.6 mL in each of two tubes) and 3 mL whole blood (Note: This volume does not allow for repeat testing.)
Container
Red-top tube or gel-barrier tube and lavender-top (EDTA) tube
Storage Instructions
Room temperature
Patient Preparation
Overnight fasting is preferred.
Causes for Rejection
Chylous serum; hemolysis; quantity not sufficient for analysis; improper container; frozen whole blood; buccal swab submitted
Test Details
Limitations
AAT may be elevated into normal range in heterozygous-deficient patients during concurrent infection, pregnancy, estrogen therapy, steroid therapy, cancer, and during postoperative periods. Homozygous-deficient patients will not show such elevation. Normal AAT levels may occur in patients with liver disease who are heterozygotes. In normals, pregnancy and contraceptive medication may elevate levels. Levels are normally low at birth but rise soon thereafter.
Genotyping tests for the two most common mutations, S and Z. Rare alleles, null or otherwise, are not detected by this assay.
α1-antitrypsin therapy may alter the patient phenotype.
Methodology
A1AT Quant: Immunologic; genotype: multiplex allele-specific polymerase chain reaction (PCR) and gel electrophoresis; phenotype: isoelectric focusing (IEF)
References
American Thoracic Society/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Resp Crit Care Med. 2003 Oct 1; 168(7):818-900. 14522813
Buist AS. Alpha 1-antitrypsin deficiency in lung and liver disease. Hosp Pract (Off Ed). 1989 May 15; 24(5):51-59. (review). 2497126
de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest. 2002 Nov; 122(5):1818-1829. 12426287
Pierce JA. Antitrypsin and Emphysema. Perspective and Prospects. JAMA. 1988 May 20; 259(19):2890-2895. (review). 33285040
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 123260 | A1A, Quant+Genotype(Rfx Pheno) | 001988 | Alpha-1-Antitrypsin, Serum | mg/dL | 1825-9 | |
| 123260 | A1A, Quant+Genotype(Rfx Pheno) | 511883 | AAT, DNA Analysis | 21723-2 | ||
| 123260 | A1A, Quant+Genotype(Rfx Pheno) | 511885 | Additional Information: | 21726-5 | ||
| 123260 | A1A, Quant+Genotype(Rfx Pheno) | 511884 | Electronically Signed by: | 72486-4 | ||
| 123260 | A1A, Quant+Genotype(Rfx Pheno) | 123252 | A1A Rfx to Phenotype | N/A |
| Reflex Table for A1A Rfx to Phenotype | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 019292 | A1A Phenotype Confirmation | 019293 | A1A Phenotype Confirmation | 6770-2 | |
| Reflex Table for A1A Rfx to Phenotype | ||||||
|---|---|---|---|---|---|---|
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
| Reflex 1 | 019292 | A1A Phenotype Confirmation | 019294 | Interpretation | 32769-2 | |
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