Alpha-1 antitrypsin deficiency (AAT deficiency) is a common hereditary disorder in persons of northern European heritage. AAT is a protein that is mainly produced in the liver, it inactivates proteases like neutrophil elastase in the lungs in healthy persons. If a person has an AAT deficiency, the proteins don’t have the right shape and get stuck in the liver cells. This will cause, among other things, shortness of breath, lung infections and tiredness. People with AAT deficiency usually develop the first sings between ages 20 and 50. About 10% of infants with AAT deficiency develop liver disease.
Individuals carrying the PI*ZZ genotype have a higher risk of developing emphysema and liver disease. PI*SZ carriers have lower risk and PI*MM, *MS or *SS genotypes have normal or slightly decreased AAT plasma levels.
The AAT RealFast™ Assay is a real-time PCR that detects the PI*S and PI*Z variants of the SERPINA1 gene. In a human DNA extract, the assay discriminates all of the possible genotypes: PI*MM, PI*MS, PI*MZ, PI*SZ and PI*SS or PI*ZZ.
Goffin Molecular Technologies offers this test as well as other tests for genetic disorders, for more information click here.
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