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Clinical Chemistry 44: 1146-1148, 1998;
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(Clinical Chemistry. 1998;44:1146-1148.)
© 1998 American Association for Clinical Chemistry, Inc.

Editorial

Ensuring Accurate Molecular Genetic Testing

Margaret McGovern

Mt. Sinai Medical Center, 100th St. and 5th Ave., Box 1497, New York, NY 10029, Fax 212-860-3316

In this issue of Clinical Chemistry, Lutz et al. (1) report on a multicenter evaluation of polymerase chain reaction (PCR) methods for the detection of Factor V Leiden genotypes. Mutations in the Factor V Leiden gene have been shown to result in activated protein C (APC) resistance, which is the most common cause of inherited venous thrombosis in Caucasians (2)(3)(4). In particular, a specific mutation in the Factor V Leiden gene, a guanine- to-adenine substitution at nucleotide 1651 that results in a glutamine-to-arginine substitution at position 506 (R506Q), has been shown to be associated with APC resistance (2)(3). Clinically, individuals who are heterozygous for this mutant allele have a 5- to 10-fold increased risk for thrombotic events, and individuals who are homozygous have a 50- to 100-fold increase (2)(5). In the past, patients with APC resistance could be identified only by coagulation-based assays that are limited by decreased reliability of results in a number of conditions (e.g., pregnancy) and in patients receiving certain pharmacologic agents (e.g., anticoagulant therapy) (6). In contrast, molecular testing for the identification of Factor V Leiden gene mutation heterozygotes and homozygotes is not subject to these limitations. This advantage over coagulation-based assays has resulted in the rapid integration of this testing into clinical practice and its widespread availability. For example, in a recent survey of molecular genetic testing laboratory directors, Factor V Leiden mutation detection was available in 29% of 245 responding laboratories (7).

In the study by Lutz et al., six laboratories that offer Factor V Leiden mutation analysis simultaneously tested a set of 62 blinded patient samples to determine the Factor V Leiden genotype. Although each of the participating laboratories had developed PCR-based . . . [Full Text of this Article]


References




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
M. K. Schwartz
Genetic Testing and the Clinical Laboratory Improvement Amendments of 1988: Present and Future
Clin. Chem., May 1, 1999; 45(5): 739 - 745.
[Abstract] [Full Text] [PDF]


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