How Do You Test for AATD?
On this page you'll learn:
- Guidelines recommend parallel serum and genetic testing in all patients diagnosed with COPD, emphysema, persistently obstructed asthma, and unexplained bronchiectasis1-3
- SERPINA1 genetic and alpha-1 antitrypsin (AAT) protein level testing are the only ways to rule out or diagnose alpha-1 antitrypsin deficiency (AATD)2,4
- Testing is widely available, collection is simple5,6
Genetic and serum level testing are the only ways to rule out or diagnose AATD2,4
Perform parallel SERPINA1 genetic testing and AAT protein level testing for the diagnosis of AATD3
Timely detection of AATD can help to improve patient outcomes9,10
|
SERPINA1 genetic testing2,5,11 |
| WHY: To confirm a diagnosis of AATD and determine the patient’s specific genotype. |
| WHAT: Identification of genetic alleles (M, S, Z, F, I, etc). |
|
HOW: Buccal swab, saliva, dried blood spot sample, whole blood sample; detection via DNA sequencing. Testing can be conducted through targeted or multigene panels. |
|
AAT protein level testing1,3,5 |
| WHY: To determine whether AAT protein deficiency is present and to assess severity. |
| WHAT: Quantitative measure of AAT serum levels. |
| HOW: Whole blood, serum, or dried blood spot sample; available methods include radial immunodiffusion, nephelometry, and latex-enhanced immunoturbidimetry. |
AATD testing is widely available5,6
Testing is widely available, collection is simple
A buccal swab takes <5 minutes and can detect common AATD variants
Protein test results vary in time from days to weeks
Explore targeted AATD testing options
Some of the laboratories offering AATD testing are listed below.a Tests vary according to factors such as test type, sample type required, cost, and turnaround time to receive results. Check back periodically for updates.
Labcorp
Access AAT protein level testing, genotyping (2 variants: S and Z), and PI typing.
Sample type:
- 3 mL serum (in two 1.5-mL tubes) plus
- WB: 7 mL EDTA (lavender) or buccal swab
Turnaround time: 6-12 days
Mayo Clinic Laboratories
Access full gene sequencing, AAT protein level testing, and prototyping (2 variants: S and Z).
Sample type:
- WB: 3 mL EDTA (lavender) or ACD (yellow)
- Serum: 1.25 mL
Turnaround time: 7-14 days
National Jewish Health Advanced Diagnostic Laboratories
Access AAT protein level testing, genotyping, and reflex to full sequencing.
Sample type:
- WB (genotype): 2 mL ACD A or B (yellow); or EDTA (lavender) plus
- 2 mL plain red top or SST (for AAT level)
- Buccal swab (DNA only): 1-2 swabs (cat. no. puritan 25-1506 1PF)
Turnaround time: 7-10 days
Quest Diagnostics
Access AAT protein level testing and genotyping (2 variants: S and Z).
Sample type for genotyping:
- WB: 2 mL EDTA (lavender), heparin (green), or ACD (yellow)
Sample type for AAT level and genotyping:
- WB: 5 mL EDTA (lavender) or ACD A or B (yellow) plus
- Serum: 1 mL
Turnaround time: 6-10 days
Alpha-1 Coded Testing (ACT) Study at University of Florida Health
Access genotyping and full sequencing.
Sample type:
- DBS kit mailed to subject with consent form
Turnaround time:
- Call (855) 476-1227 to discuss
Explore multigene panels
Blueprint Genetics
Access the cystic lung disease panel and comprehensive pulmonary panel.
Test type:
- WB: 1 mL EDTA (lavender)
- DNA: Min 2 μg in TE buffer
- Saliva swab: Per kit
Turnaround time: 21-28 days
Fulgent Genetics
Access the lung disorders NGS panel and the cystic lung disease NGS panel.
Sample type:
- WB: 4 mL EDTA (lavender) or ACD A or B (yellow)
- DNA: 3 μg in EB buffer or equivalent
- Saliva swab: Per kit
Turnaround time: 3-5 weeks (rush/STAT available)
Greenwood Genetic Center Laboratories
Access the comprehensive pulmonary NGS panel.
Sample type:
- WB: 3-4 mL EDTA (lavender)
Turnaround time: 8 weeks
Revvity Omics
Access the comprehensive pulmonary disease panel.
Sample type:
- WB: 3-5 mL EDTA (lavender)
- DBS: All spots
- Saliva: Oragene kit
Turnaround time: 2-3 weeks
The Lantern Project (performed at Revvity Omics)
Access the focused pulmonary disorders panel.
Sample type:
- WB: 3-5 mL EDTA (lavender)
- DBS: All spots
- Saliva: Oragene kit
Turnaround time: 2-3 weeks
aThere may be other diagnostic or genetic testing appropriate for your patient, and this is not an endorsement of any specific lab. Other testing options can be found at www.concertgenetics.com or www.ncbi.nlm.nih.gov/gtr. Sanofi does not review or control the content of non-Sanofi websites. Consult each laboratory for a full range of options. Content is current at time of publication, and tests may not be available in all states; please call laboratory to confirm test availability, sample shipping information, and all other logistics. This listing does not constitute an endorsement by Sanofi of information provided by any other organizations.
Family testing of first-degree relatives is the most efficient detection technique1,2
Pathogenic variants of the SERPINA1 gene are inherited in an autosomal codominant pattern.12,13
AATD inheritance pattern
Frequently asked questions
The clinical manifestations of AATD often overlap with those of COPD, emphysema, asthma, and bronchiectasis. Symptoms such as dyspnea, wheezing, chronic cough, and reduced exercise tolerance are not specific to AATD. As a result, alpha-1 antitrypsin testing is required to confirm or rule out an AATD diagnosis.1,2,4,14-16
Alpha-1 antitrypsin deficiency (AATD) diagnosis typically involves both3:
- Alpha-1 antitrypsin serum testing to measure circulating AAT protein levels
- SERPINA1 genetic testing to identify disease-associated variants
Together, these tests help establish an alpha-1 antitrypsin deficiency diagnosis and characterize the underlying genetic cause of deficiency.3
Serum AAT levels and genotype information provide complementary information. An alpha-1 antitrypsin serum test measures the amount of circulating protein, while genetic testing for alpha-1 antitrypsin deficiency identifies the SERPINA1 variants responsible for reduced AAT production or function. Using both approaches ensures diagnostic accuracy.2,3,5
Definitions: AAT=alpha-1 antitrypsin; AATD=alpha-1 antitrypsin deficiency; ACD=acid citrate dextrose; COPD=chronic obstructive pulmonary disease; DBS=dried blood spot; DNA=deoxyribonucleic acid; EDTA=ethylenediaminetetraacetic acid; IPF=idiopathic pulmonary fibrosis; NGS=next-generation sequencing; PI=protease inhibitor; SST=serum separator tube; STAT=immediate/urgent processing; TBD=to be determined; TE=Tris-EDTA; WB=whole blood.
References: 1. American Thoracic Society; European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818-900. 2. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016;3(3):668-682. 3. Abboud RT, Nelson TN, Jung B, et al. Alpha1-antitrypsin deficiency: a clinical-genetic overview. Appl Clin Genet. 2011;4:55-65. 4. Quinn M, Ellis P, Pye A, Turner AM. Obstacles to early diagnosis and treatment of alpha-1 antitrypsin deficiency: current perspectives. Ther Clin Risk Manag. 2020;16:1243-1255. 5. Feitosa PHR, de Oliveira Castellano MVC, da Costa CH, et al. Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency. J Bras Pneumol. 2024;50(5):e20240235. doi:10.36416/1806-3756/e20240235 6. Gurevich S, Daya A, Da Silva C, Girard C, Rahaghi F. Improving screening for alpha-1 antitrypsin deficiency with direct testing in the pulmonary function testing laboratory. Chronic Obstr Pulm Dis. 2021;8(2):190-197. 7. Hiller AM, Piitulainen E, Jehpsson L, Tanash H. Decline in FEV1 and hospitalized exacerbation in individuals with severe alpha-1 antitrypsin deficiency. Int J Chron Obstruct Pulm Dis. 2019;14:1083. 8. Smith DJ, Ellis PR, Turner AM. Exacerbations of lung disease in alpha-1 antitrypsin deficiency. Chronic Obstr Pulm Dis. 2021;8(1):162-176. 9. Hernandez P, Bossé Y, Bush P, et al. Alpha-1-antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society meta-analysis and clinical practice guideline. Chest. 2025;167(4):1044-1063. 10. Wells AD, Woods A, Hilleman DE, Malesker MA. Alpha-1 antitrypsin replacement in patients with COPD. P T. 2019;44(7):412-415. 11. Mulkareddy V, Roman J. Pulmonary manifestations of alpha 1 antitrypsin deficiency. Am J Med Sci. 2024;368(1):1-8. 12. Stoller JK, Tomashefski J Jr, Crystal RG, et al. Mortality in individuals with severe deficiency of α1-antitrypsin: findings from the National Heart, Lung, and Blood Institute Registry. Chest. 2005;127(4):1196-1204. 13. MedLinePlus Genetics. Alpha-1 antitrypsin deficiency. National Library of Medicine. Updated September 15, 2021. Accessed August 19, 2026. https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency 14. Global Initiative for Chronic Obstructive Lung Disease (GOLD). GOLD Report. Accessed February 3, 2026. https://goldcopd.org/2026-gold-report-and-pocket-guide/ 15. Campos MA, Wanner A, Zhang G, Sandhaus RA. Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003. Chest. 2005;128(3):1179-1186. 16. Kalfopoulos M, Wetmore K, ElMallah MK. Pathophysiology of alpha-1 antitrypsin lung disease. In: Borel F, Mueller C, eds. Alpha-1 Antitrypsin Deficiency: Methods in Molecular Biology. Humana Press; 2017:9-20.
