Detection of Pi*Z and Pi*S by loop-mediated isothermal amplification for research use only (RUO)
The LAMP Human A1AT deficiency KIT is an in vitro diagnostic test intended for the qualitative detection of two different SERPINA1 alleles, named Pi*Z and Pi*S. This assay is dedicated to professional use in diagnostic laboratory. The device is not for self-testing.
The SERPINA1 gene encodes the protein alpha-1 antitrypsin and is localized to chromosome 14q32. Multiple mutations have been identified, of which rs289299474 and rs17580 are the most common causes of severe alpha-1 antitrypsin deficiency, which may result in lung or liver disease. Symptoms are shortness of breath, wheezing, increased risk of lung infections, COPD, emphysema, cirrhosis and liver failure. One defective allele results in a milder form of the disease than two mutated alleles and disease severity is also dependent on the allele.
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