Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to Alpha-1-Antitrypsin Phenotype
Ordering Recommendation

Preferred test to identifiy alpha-1-antitrypsin deficiency and causative DNA and protein variants.

Immunoturbidimetry/Polymerase Chain Reaction/Fluorescence Monitoring/Isoelectric Focusing
2-10 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Serum separator tube AND lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Allow serum to clot completely at room temperature. Separate serum from cells ASAP or within 2 hours of collection. Transport 0.5 mL serum AND 3 mL whole blood. (Min: 0.5 mL serum AND 0.5 mL whole blood) 
Storage/Transport Temperature
Unacceptable Conditions
Serum: Ambient: 1 week; Refrigerated: 3 months; Frozen: 3 months (avoid repeat freeze/thaw cycles)
Whole Blood:
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month. 
Reference Interval
Test Number
Reference Interval
0050001Alpha-1-AntitrypsinEffective November 17, 2014
90-200 mg/dL
 Alpha-1-Antitrypsin Phenotype

Interpretive Data
Background Information for A1A (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to A1A Phenotype:
Characteristics of Alpha-1-Antitrypsin (AAT) Deficiency:
Coughing, wheezing, bronchiectasis, chronic obstructive pulmonary disease, emphysema, and cirrhosis.
1 in 3000 to 5000 North American individuals.
Autosomal recessive.
Two pathogenic mutations in the SERPINA1 gene on opposite chromosomes.
Clinical Sensitivity:
95 percent.
Mutations Tested:
S allele (c.791A>T) and Z allele (c.1024G>A).
Genotyping performed by PCR followed by fluorescent probe melting analysis; AAT protein concentration measured using immunoturbidmetric assay; phenotyping performed by isoelectric focusing electrophoresis. Genotyping and AAT serum protein concentration determination are performed on all specimens. Protein phenotyping is only performed on specimens that have AAT protein concentrations of less than 90 mg/dL and are not homozygous or compound heterozygous for the S or Z deficiency alleles by genotyping..
Analytical Sensitivity and Specificity:
99 percent.
SERPINA1 mutations, other than the S (c.791A>T) and Z (c.1024G>A) alleles, will not be detected. Diagnostic errors can occur due to rare sequence variations.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at

Statement C: Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Alpha-1-antitrypsin serum protein concentration determination and A1A genotyping are performed on all specimens. If two deficiency alleles (ZZ, SZ, or SS) are detected, then no further testing will be added. If the protein concentration is less than 90 mg/dL and only one or no deficiency allele is detected by A1A genotyping, then phenotyping will be added. Additional charges apply.
Hotline History
View Hotline History
CPT Code(s)
82103; 81332; if reflexed, add 82104
Component Test Code*Component Chart NameLOINC
0051259Alpha-1-Antitrypsin S Allele1829-1
0051260Alpha-1-Antitrypsin Z Allele1831-7
0051261Alpha-1-Antitrypsin Interpretation1830-9
0089005Alpha-1-Antitrypsin Phenotype49244-7
2001289Alpha-1-Antitrypsin Genotype Specimen31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please view this test within the Laboratory Test Directory found at
  • A-1-Antitrypsin
  • A1A
  • AAT
  • Alpha 1 Antitrypsin
  • Alpha 1 Antitrypsin Genotype
  • Alpha one Antitrypsin
  • Alpha1-Protease Inhibitor
  • Anti-Alpha-1-Trypsin
  • Antitrypsin
  • Phenotype
  • Phenotyping
  • Pi Typing
  • Prolastin
  • Protease I