Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Am J Clin Pathol. 2013 Feb;139(2):184-91. doi: 10.1309/AJCP6XBK8ULZXWFP.

Facilitating the laboratory diagnosis of α1-antitrypsin deficiency.

Author information

  • 1Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA. dina.n.greene@kp.org

Abstract

α(1)-Antitrypsin (AAT) deficiency leads to deterioration of the lungs that can be prevented with diagnosis and treatment. Isoelectric focusing (IEF) electrophoresis is the current biochemical gold standard for detecting AAT deficiency variants but involves complex interpretation. Variant AAT samples were collected over a 2-year period. Stability of AAT for phenotype determination was assessed in whole blood, dried blood spots, and dried serum spots. A compendium displaying 13 common and 5 rare AAT phenotypes was created, and a detailed methodology describing how to recognize AAT banding patterns and interpret a rare phenotype accompanied these visual data. AAT was stable for IEF phenotype analysis for at least 1 week in whole blood and for 24 hours on dried serum spots. In conclusion, a reference compendium of known AAT phenotypes was established that can serve as a resource for interpreting AAT phenotypes.

PMID:
23355203
[PubMed - indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Write to the Help Desk