Laboratory diagnosis by genotyping

Irene Belmonte, Luciana Montoto, Francisco Rodríguez-Frías

Research output: Chapter in BookChapterResearchpeer-review


© Springer Science+Business Media LLC 2017. 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.
Original languageEnglish
Title of host publicationMethods in Molecular Biology
Number of pages15
Publication statusPublished - 1 Jan 2017


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


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