Alpha-1-Antitrypsin (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to Alpha-1-Antitrypsin Phenotype
Ordering Recommendation
Diagnostic testing for alpha-1-antitrypsin deficiency or carrier screening for alpha-1-antitrypsin deficiency.
Immunoturbidimetry/Polymerase Chain Reaction/Fluorescence Monitoring/Isoelectric Focusing
Mon, Thu
2-10 days  
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
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: 1 week; Frozen: Unacceptable  
Reference Interval
Test Number Components Reference Interval
0050001Alpha-​1-​Antitrypsin Effective November 17, 2014
90-​200 mg/dL
 Alpha-​1-​Antitrypsin Phenotype By report
Interpretive Data
Background Information for A1A (SERPINA1) Enzyme Concentration and 2 Mutations with Reflex to A1A Phenotype:
Coughing, wheezing, chronic obstructive pulmonary disease, emphysema, cirrhosis.
1 in 3000 to 1 in 5000.
Autosomal recessive.
Mutations in the AAT glycoprotein gene on chromosome 14q31-32.3; homozygosity for the Z allele is the most common cause.
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. 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.
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.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.

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

See Compliance Statement C:
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

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.
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 SZ Interpretation1830-9
0089005Alpha-1-Antitrypsin Phenotype49244-7
2001289Alpha-1-Antitrypsin SZ 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 click the sidebar link to access the Interface Map.
  • A-1-Antitrypsin
  • A1A
  • AAT
  • Alpha 1 Antitrypsin
  • Alpha 1 Antitrypsin Genotype
  • Alpha one Antitrypsin
  • Alpha1-Proteinase Inhibitor
  • Anti-Alpha-1-Trypsin
  • Antitrypsin
  • Phenotype
  • Phenotyping
  • Pi Typing
  • Prolastin
  • Protease I