Laboratory Diagnosis by Genotyping

  • Irene Belmonte
  • Luciana Montoto
  • Francisco Rodríguez-Frías
Part of the Methods in Molecular Biology book series (MIMB, volume 1639)


Alpha-1 antitrypsin (AAT) genotyping is useful to confirm the clinical diagnosis of AAT deficiency and determine the specific allelic variant. Genotyping is the reference standard procedure for identifying rare allelic variants and characterizing new variants. It is also useful when there is a discrepancy between the patients’ AAT levels and their phenotypes. AAT genotype is determined by an allele-specific genotyping assay for the S, Z, and Mmalton variants and by exome sequencing.

Key words

Alpha-1 antitrypsin laboratory diagnosis Alpha-1 antitrypsin genotyping Alpha-1 antitrypsin deficiency Alpha-1 antitrypsin allele-specific genotyping Alpha-1 antitrypsin exome sequencing LightCycler Melting curves 



This study was supported in part by a grant from Fundación Catalana de Pneumología (FUCAP 2015) and by funding from Grifols to the Catalan Center for Research in Alpha-1 antitrypsin deficiency of the Vall d’Hebron Research Institute in Vall d’Hebron University Hospital, Barcelona, Spain.


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Copyright information

© Springer Science+Business Media LLC 2017

Authors and Affiliations

  • Irene Belmonte
    • 1
    • 2
  • Luciana Montoto
    • 3
  • Francisco Rodríguez-Frías
    • 1
    • 4
  1. 1.Liver Pathology Unit, Departments of Biochemistry and MicrobiologyHospital Universitari Vall d’Hebron, Universitat Autònoma de Barcelona (UAB)BarcelonaSpain
  2. 2.Vall d’Hebron Institut de Reserca (VHIR)BarcelonaSpain
  3. 3.Molecular Biology DepartmentHospital de Niños Pedro ElizaldeBuenos AiresArgentina
  4. 4.CIBER de Enfermedades Hepáticas y Digestivas (CIBERehd), Instituto Nacional de Salud Carlos IIIMadridSpain

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