alpha-1-genotype-tool title

Disease risk and treatment recommendations by genotype

This tool allows you to input your patient´s genotype results to receive information on their risks for lung and liver disease, as well as treatment recommendations from clinical guidelines and professional societies.

If your patient’s genotype includes alleles other than Pi*M, Pi*Z, Pi*S or Pi*(null), please select “Other” in the drop-down fields. If there are no recommendations specific to your patient’s genotype, you may wish to consult with a clinical geneticist or genetic counsellor to assist you with the interpretation of your results.

Please note: this tool is not for diagnostic purposes. The tool provides information about clinical recommendations for patients with AAT deficiency that have been compiled and summarised from guidelines and professional societies. 

Fields with an asterisk (*) are required.

ThinkAlpha-1 Form

ThinkAlpha-1 Form

1. Enter one allele in each drop-down field from your patient's genotype.*


2. If you have any of the following information, please check all that apply.


While genotyping is very accurate, it is recommended to confirm the diagnosis with additional testing, including phenotyping (usually with isoelectric focusing) and measurement of AAT serum levels.1,2

3. Please select one of the following options.*

My patient:


Several professional societies and clinical guidelines recommend testing all COPD patients for AAT deficiency.3-7 In addition, it is recommended to test the close relatives of AAT deficient index cases.3-5,7 Even if they are asymptomatic, identification of a person with AAT deficiency can assist with preventative lifestyle changes, such as smoking cessation, and proper monitoring.4,7

4. Please select your country from the following menu:


think what AAT

AAT: alpha1 antitrypsin; COPD: chronic obstructive pulmonary disease.

alpha-1-genotype-tool references


  1. Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α1-antitrypsin deficiency. European Respiratory Journal. 2017;50(5).
  2. A1AT Genotype Package Insert. Progenika BioPharma SA. 2017. Unpublished Work
  3. ATS, ERS. 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.
  4. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult (Clinical Practice Guidelines). Chronic Obstr Pulm Dis (Miami). 2016;3(3):668-82.
  5. Marciniuk DD, Hernandez P, Balter M, et al. Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Thoracic Society clinical practice guideline. Can Respir J. 2012;19(2):109-16.
  6. World Health Organization. Alpha1-Antitrypsin deficiency: Memorandum from a WHO meeting. Bull World Health Organ. 1997;75(5):397-415.
  7. Vidal R, Blanco I, Casas F, et al. Guidelines for the diagnosis and management of alpha1-antitrypsin deficiency. Arch Bronconeumol. 2006;42(12):645-59.