Test Details
Methodology
A1AT Quant: Immunologic; genotype: multiplex allele-specific polymerase chain reaction (PCR) and gel electrophoresis; phenotype: isoelectric focusing (IEF)
Result 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.
Test Includes
α1-Antitrypsin, DNA analysis; α1-antitrypsin, serum; reflex to phenotype
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.
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
References
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 | ||
| Order Code | 123260 | |||||
| Order Code Name | A1A, Quant+Genotype(Rfx Pheno) | |||||
| Order Loinc | ||||||
| Result Code | 001988 | |||||
| Result Code Name | Alpha-1-Antitrypsin, Serum | |||||
| UofM | mg/dL | |||||
| Result LOINC | 1825-9 | |||||
| Order Code | 123260 | |||||
| Order Code Name | A1A, Quant+Genotype(Rfx Pheno) | |||||
| Order Loinc | ||||||
| Result Code | 511883 | |||||
| Result Code Name | AAT, DNA Analysis | |||||
| UofM | ||||||
| Result LOINC | 21723-2 | |||||
| Order Code | 123260 | |||||
| Order Code Name | A1A, Quant+Genotype(Rfx Pheno) | |||||
| Order Loinc | ||||||
| Result Code | 511885 | |||||
| Result Code Name | Additional Information: | |||||
| UofM | ||||||
| Result LOINC | 21726-5 | |||||
| Order Code | 123260 | |||||
| Order Code Name | A1A, Quant+Genotype(Rfx Pheno) | |||||
| Order Loinc | ||||||
| Result Code | 511884 | |||||
| Result Code Name | Electronically Signed by: | |||||
| UofM | ||||||
| Result LOINC | 72486-4 | |||||
| Order Code | 123260 | |||||
| Order Code Name | A1A, Quant+Genotype(Rfx Pheno) | |||||
| Order Loinc | ||||||
| Result Code | 123252 | |||||
| Result Code Name | A1A Rfx to Phenotype | |||||
| UofM | ||||||
| Result LOINC | N/A |
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 019292 | A1A Phenotype Confirmation | 019293 | A1A Phenotype Confirmation | 6770-2 | |
| Reflex 1 | ||||||
| Order Code | 019292 | |||||
| Order Name | A1A Phenotype Confirmation | |||||
| Result Code | 019293 | |||||
| Result Name | A1A Phenotype Confirmation | |||||
| UofM | ||||||
| Result LOINC | 6770-2 | |||||
| Order Code | Order Name | Result Code | Result Name | UofM | Result LOINC | |
|---|---|---|---|---|---|---|
| Reflex 1 | 019292 | A1A Phenotype Confirmation | 019294 | Interpretation | 32769-2 | |
| Reflex 1 | ||||||
| Order Code | 019292 | |||||
| Order Name | A1A Phenotype Confirmation | |||||
| Result Code | 019294 | |||||
| Result Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 32769-2 | |||||