Laboratory diagnosis for inherited alpha 1-antitrypsin deficiency

The laboratory diagnosis of alpha 1-antitrypsin deficiency has evolved over the last 40 years, since the first cases of the disorder were reported. It is currently performed in specialized centres requiring a combination of different biochemical methods: immunochemical measurement of serum alpha 1-antitrypsin concentrations, isoelectric focusing, genotyping, and sequencing. The availability of specimens, such as the dried blood spot, have facilitated the implementation of laboratory analyses for alpha 1-antitrypsin deficiency, but have also challenged laboratories to develop more reliable and reproducible techniques starting from dried blood. In this report we briefly review the whole matter and describe the diagnostic flow chart for alpha 1-antitrypsin deficiency detection that we have developed in an attempt to provide useful information for physicians and scientists involved in this diagnostic setting.