期刊
EXPERIMENTAL AND MOLECULAR PATHOLOGY
卷 87, 期 2, 页码 105-108出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.yexmp.2009.06.002
关键词
Genotyping; Mutation; Molecular diagnostics; Factor V Leiden; Factor II; Prothrombin; MTHFR
类别
Background: Our ability to detect single nucleotide polymorphisms (SNPs) and gene mutations has become commonplace in the clinical laboratory setting. Molecular genetic testing for gene variants associated with hypercoagulability has become a standard of practice for Factor V and Factor H polymorphisms. Methods: in this study, we evaluated a novel technology that allows for the routine assessment of these SNPs, the Verigene (R) System (Nanosphere Inc, Northbrook, IL), as a low-density array that does not require PCR amplification prior to detection. Precision was assessed by using multiple operators for within and between run performance evaluations. Accuracy was assessed by evaluating 176 DNA samples from patients who had been previously tested for the SNPs of interest in this multicenter study. Results: No mis-calls were made during the precision studies. Testing of the 176 DNA samples resulted in individual call rates for the F5, F2 and MTHFR genotypes of 98.3%, 94.9%, and 92.6%, respectively. Conclusions: The Verigene (R) F5/F2/MTHFR Nucleic Acid Tests for the Factor V (1691G>A), Factor II (20210G>A) and MTHFR (677C>T) genes were robust methods for SNP detection without the need for DNA amplification. The ease of use and performance of this system makes it suitable for the clinical laboratory setting. (C) 2009 Elsevier Inc. All rights reserved.
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