Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.

Stefania OttavianiValentina BarzonAmaya BuxensMarina GorriniAmaia LarruskainRachid El HamssAlice M BalderacchiAngelo G CorsicoIlaria Ferrarotti

Published in: Journal of clinical laboratory analysis (2020)

The A1AT Genotyping Test assay was highly reliable and robust and allowed shorter diagnostic times. In few cases, it has been necessary to sequence the SERPINA1 gene to identify other rare mutations not included in the kit.

Keyphrases

high throughput
genome wide
copy number
dna methylation
genome wide identification
replacement therapy
single molecule
gene expression
genome wide analysis
amino acid