Test for Alpha1-Antitrypsin Deficiency

A buccal swab test has been developed to detect alpha1-antitrypsin (AAT) deficiency, a common genetic factor leading to chronic obstructive pulmonary disease (COPD).

In 2003, the American Thoracic Society and the European Respiratory Society released new guidelines that recommended broadening the AAT testing population to include individuals and their close relatives who have COPD, emphysema, unresponsive asthma, or unexplained liver disease. Using the new DNA-based buccal swab, doctors and patients can adhere to these guidelines through a simple, noninvasive swab of the inside cheek. Before now, the only way to diagnose AAT deficiency was by a blood test.

"Effective testing is critical, because once diagnosed, the disease can be managed through pharmaceutical therapy or lifestyle changes, such as smoking cessation and avoidance of environmental triggers,” said John Walsh, president and CEO of the Alph-1 Foundation, a leading research, education, and consumer organization for AAT deficiency.

Common signs and symptoms of AAT deficiency include a family history of lung or liver disease, shortness of breath, decreased exercise tolerance, asthma or allergies that do not respond to treatment, recurring respiratory infections, rapid deterioration of lung function without a history of significant smoking, unexplained liver problems, and elevated liver enzymes without an identified cause.

The test was developed by Laboratory Corporation of America Holdings (LabCorp, Burlington, NC, USA).




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