LAMP HUMAN A1AT DEFICIENCY KIT
| Format | References |
| 24 reactions | LC-A1AT-LP-24 |
INTENDED USE
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.
DISEASE INFORMATION
A1AT deficiency
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.