TY - JOUR
T1 - Laboratory diagnosis of alpha1-antitrypsin deficiency
AU - Ferrarotti, Ilaria
AU - Scabini, Roberta
AU - Campo, Ilaria
AU - Ottaviani, Stefania
AU - Zorzetto, Michele
AU - Gorrini, Marina
AU - Luisetti, Maurizio
PY - 2007/11
Y1 - 2007/11
N2 - The laboratory diagnosis of alpha1-antitrypsin (AAT) deficiency (AATD) has evolved over the last 40 years since the first cases of the disorder were reported. It is currently performed in specialized centers, and it requires a combination of different biochemical methods: nephelometric AAT concentration, isoelectric focusing, genotyping, and sequencing. The availability of matrices such as the dried blood spot have facilitated the implementation of laboratory analyses for AATD, but they have also challenged laboratories to develop more reliable and reproducible techniques starting from dried blood. In this article, we describe the protocols we have optimized for AATD diagnosis from dried blood spot, in an attempt to hopefully provide useful information for physicians and scientists involved in this diagnostic line. We also describe the diagnostic flowchart for AATD detection that we have developed accordingly.
AB - The laboratory diagnosis of alpha1-antitrypsin (AAT) deficiency (AATD) has evolved over the last 40 years since the first cases of the disorder were reported. It is currently performed in specialized centers, and it requires a combination of different biochemical methods: nephelometric AAT concentration, isoelectric focusing, genotyping, and sequencing. The availability of matrices such as the dried blood spot have facilitated the implementation of laboratory analyses for AATD, but they have also challenged laboratories to develop more reliable and reproducible techniques starting from dried blood. In this article, we describe the protocols we have optimized for AATD diagnosis from dried blood spot, in an attempt to hopefully provide useful information for physicians and scientists involved in this diagnostic line. We also describe the diagnostic flowchart for AATD detection that we have developed accordingly.
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U2 - 10.1016/j.trsl.2007.08.001
DO - 10.1016/j.trsl.2007.08.001
M3 - Article
C2 - 17964515
AN - SCOPUS:35348969997
VL - 150
SP - 267
EP - 274
JO - Translational Research
JF - Translational Research
SN - 1931-5244
IS - 5
ER -