Biocerna offers the prioprietary DNA1 Advanced Alpha-1 ScreeningTM (DNA1), an innovative reflex-based test that aims to improve diagnosis of Alpha-1 Antitrypsin Deficiency (Alpha-1). DNA1 is the most comprehensive Alpha-1 test available that identifies known and unknown clinically relevant genetic variants to help physicians achieve an accurate diagnosis. Biocerna has been working with CSL Behring, a leader in the plasma protein therapeutics industry, since 2013 to offer DNA1 tests to patients.
Alpha-1 antitrypsin deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1 antitrypsin (A1AT) which is found in the blood. This deficiency may predispose an individual to several illnesses and most commonly manifests as chronic obstructive pulmonary disease (including bronchiectasis) and liver disease (especially cirrhosis and hepatoma), or more rarely, as a skin condition called panniculitis.
Symptoms of AAT deficiency include
- Shortness of breath and wheezing
- Repeated lung infections
- Rapid heartbeat upon standing
- Vision problems
- Weight loss
Some people have no symptoms and do not develop complications.