An improved algorithm for activated protein C resistance and factor V Leiden screening.

Abstract

OBJECTIVES:

To evaluate the performance of a Russell viper venom-based activated protein C resistance (APCR) screening test relative to DNA analysis for the factor V Leiden mutation.

METHODS:

We evaluated the concordance between Pefakit APCR screening results and DNA analysis for 435 patients homozygous (n = 11), heterozygous (n = 310), or wild-type (n =114) for the G1691A allele.

RESULTS:

Using receiver operating characteristic analysis, we found that a cutoff of 1.89 for the APCR ratio yields a sensitivity and specificity of 99.1%. In patients with discrepant genotype-phenotype correlation, their APCR may provide a more clinically relevant result.

CONCLUSIONS:

We compared several strategies for employing reflex testing and found that performing initial APCR screening followed by confirmatory molecular analysis on a subset of cases in the borderline regions between the diagnostic groups can reduce unnecessary testing by approximately 80% without compromising diagnostic accuracy.

• Authors: Adrianna Z Herskovits, Elizabeth A Morgan, Susan J Lemire, Neal I Lindeman, David M Dorfman
• Journal: American journal of clinical pathology (Am J Clin Pathol) Vol. 140 Issue 3 Pg. 379-86 (Sep 2013) ISSN: 1943-7722 [Electronic] England
• PMID: 23955457 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• factor V Leiden
• Factor V

Topics

• Activated Protein C Resistance (blood, diagnosis, genetics)
• Adolescent
• Adult
• Aged
• Aged, 80 and over
• Algorithms
• Alleles
• Child
• Child, Preschool
• Factor V (genetics)
• Female
• Genetic Association Studies
• Genetic Testing (methods)
• Genotype
• Humans
• Infant
• Infant, Newborn
• Male
• Middle Aged
• ROC Curve
• Sensitivity and Specificity