Laboratory methodologies used in different central national laboratories across Europe for diagnosis of α1-antitrypsin deficiency

CountryBiological sampleFirst-line method(s)Second-line
Further method(s)Author, year [Ref.]
IrelandSerum/plasmaAAT levelPhenotypingGenotyping, sequencingMcElvaney, 2015 [136]
PolandSerum/DBSSerum AAT levelDetermination of AAT levels on
DBS samples, phenotyping, genotyping
SequencingChorostowska-Wynimko, 2015 [137]
SerbiaBloodImmunonephelometric assay for AAT; genotypingIEF; DNA sequencingBeletic, 2014 [138]
FranceSerumQuantification of serum AAT concentration with possible complementary measurement of the elastase inhibitory capacity of serumPhenotyping, genotypingDirect sequencingBalduyck, 2014 [139]
GermanyDBSAAT levelAAT level by nephelometry, genotypingPhenotyping, sequencingMiravitlles, 2010 [31]
ItalyDBSAAT level, genotypingPhenotypingSequencingMiravitlles, 2010 [31]
SpainDBSAAT levelGenotypingPhenotyping; sequencingMiravitlles, 2010 [31]
USABlood/serumAAT level, genotypingPhenotypingBornhorst, 2007 [140]
ItalyDBSAAT level, genotyping, phenotypingSequencingFerrarotti, 2007 [141]
PolandSerum levelPhenotypingGene screeningKaczor, 2007 [142]
ItalyBlood/DBSSerum levelPhenotypingGenotyping, sequencingCorda, 2006 [143]
USABloodAAT level, genotypingPhenotypingSnyder, 2006 [144]
USAPlasma-serum/DBSConcentration of AAT protein in plasma or serum (immunoassay)Phenotype (IEF)Genotype (PCR), function test (inhibition of leukocyte elastase)Campbell, 2000 [145]

AAT: α1-antitrypsin; DBS: dried blood spot; IEF: isoelectric focusing.