Support the diagnosis of Alpha-1 Antitrypsin (AAT) deficiency, a treatable cause of chronic obstructive pulmonary disease (COPD).

Alpha-1 Antitrypsin (AAT) deficiency is an inherited disorder, which is still an underappreciated, but treatable cause of chronic obstructive pulmonary disease (COPD). The AAT RealFast™ Assay is designed for the simultaneous detection of protease inhibitor (PI) variants *S and *Z of the SERPINA1 gene, representing the most frequent alleles associated with AAT deficiency.

 

Alpha-1 Antitrypsin Deficiency

 

  • Low serum levels of protease inhibitor AAT leading to unopposed proteolysis in the lungs result in damage of alveolar tissue and development of COPD.
  • Individuals carrying the PI*ZZ genotype are at a high risk of developing emphysema and liver disease, whereas PI*SZ carriers have lower risk. PI*MM, *MS or *SS genotypes have normal or only slightly decreased AAT plasma levels.
  • Genetic testing for SERPINA1 variants can support the diagnosis of AAT deficiency as the cause of early onset emphysema, bronchiectasis, unexplained liver disease, or necrotizing panniculitis.

 

ProductREFUnit SizeIFUBrochure
AAT mpx RealFast™ Assay7-265
7-268
100 rxn
32 rxn

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