According to an article at Clinical Lab Products, a new genetic test for alpha-1 antitrypsin deficiency was recently approved by the Food and Drug Administration (FDA). This certification is the first time that a biological molecular test that harnesses the DNA of the patient has been approved by the agency.
Alpha-1 antitrypsin deficiency (A1AD) is a genetic disorder that can result in disease of the liver or lungs. Typically, problems with the lungs can begin at anywhere from 20 to 50 years old. Symptoms include shortness of breath, wheezing, increased risk of lung infections, and COPD. Not all patients experience liver problems, but in some, cirrhosis and liver failure may occur. A genetic mutation is responsible for the deficiency. Smoking can greatly worsen symptoms and outcomes, and even shorten life expectancy in people with the disorder.
Most treatments are meant to improve symptoms and lung function; transplantation may be an option in those with severe disease. In some patients, augmentation of the deficient A1AT protein may be viable and can stop the progression of symptoms and lung damage. People with liver complications are unfortunately not suitable candidates for this treatment. However, long term effects of this treatment have not been studied. To learn more about alpha-1 antitrypsin deficiency, click here.
The test can use DNA taken from the blood or a drop of blood collected on a piece of paper. The test was developed by the pharmaceutical company Progenika Biopharma, which is based out of Bilbao, Spain. It is able to analyze 99 percent of the mutations that are known to be responsible for A1AD at the same time. Despite that fact that the test is categorized as high complexity, it can be processed by most molecular biology labs.