Laboratory Diagnosis by Genotyping
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 wordsAlpha-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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