Clinical Chemistry
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Clinical Chemistry 54: 1399, 2008; 10.1373/clinchem.2008.109868
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(Clinical Chemistry. 2008;54:1399.)
© 2008 American Association for Clinical Chemistry, Inc.

Clinical Case Study

Commentary

Melissa R. Snyder and W. Edward Highsmith, Jra

Mayo Clinic, Rochester, MN.

aAddress correspondence to this author at: Mayo Clinic, 9–20 Hilton Building, Rochester, MN, 55905. Fax 507-284-0670; e-mail highsmith.w@mayo.edu.

The first 20% of the full text of this article appears below.

Snyder and Fantz present an interesting case of {alpha}1-antitrypsin (A1AT) deficiency caused by homozygosity for the Z-deficiency allele. Although A1AT deficiency is generally associated with the Z and/or S alleles, other deficiency alleles also occur. The clinical laboratory is faced with the challenge of detecting all clinically relevant alleles in a timely and cost-effective manner. Phenotyping by isoelectric-focusing electrophoresis has been used for many years to identify a wide . . . [Full Text of this Article]






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