CSL Behring has announced the availability of DNA1 Advanced Alpha-1 Screening (DNA1), a new test that aims to improve diagnosis of Alpha-1 Antitrypsin Deficiency (Alpha-1). Launched during Alpha-1 Awareness Month, DNA1 identifies known and unknown clinically relevant genetic variants to help physicians achieve an accurate diagnosis.
Alpha-1 is a serious hereditary condition that can cause lung disease and liver disease. It is often misdiagnosed as COPD, asthma, or emphysema because the symptoms are similar: shortness of breath, chronic cough, difficulty breathing, and wheezing. The American Thoracic Society and European Respiratory Society recommend screening adults with COPD, emphysema, or irreversible asthma for Alpha-1–associated emphysema.
DNA1 Advanced Alpha-1 Screening was developed by Biocerna LLC, and laboratory testing of the kits is provided by the company. DNA1 offers test results for the following:
- Clinical chemistry. Blood spot assay to test patient alpha-1 antitrypsin (AAT) levels, as well as a C-reactive protein (CRP) test to provide full clinical analysis
- Targeted genotyping. Identifies all known, clinically relevant variants, including S, Z, and F
- Next generation sequencing. Sequencing of the SERPINA1 gene to identify unknown variants
- Isoelectric focus. Results compared to genetic results as a confirmatory step.
“For the 100,000 Americans who are estimated to be living with Alpha-1, a healthy and fulfilling lifestyle can be maintained with the proper treatment,” says John Walsh, President and CEO of the Alpha-1 Foundation. “The first step is taking a simple test, such as DNA1, to ensure an accurate diagnosis for all Alpha-1 deficient patients.” Learn more about solutions offered by CSL Behring.