Faculty Collaboration Database

Detection of genomic polymorphisms associated with venous thrombosis using the invader biplex assay. J Mol Diagn 2004 May;6(2):137-44

Date

04/21/2004

Pubmed ID

15096570

Pubmed Central ID

PMC1867477

DOI

10.1016/S1525-1578(10)60502-8

Scopus ID

2-s2.0-2342514163 (requires institutional sign-in at Scopus site)   29 Citations

Abstract

A multi-site study to assess the accuracy and performance of the biplex Invader assay for genotyping five polymorphisms implicated in venous thrombosis was carried out in seven laboratories. Genotyping results obtained using the Invader biplex assay were compared to those obtained from a reference method, either allele-specific polymerase chain reaction (AS-PCR), restriction fragment length polymorphism (PCR-RFLP) or PCR-mass spectrometry. Results were compared for five loci associated with venous thrombosis: Factor V Leiden, Factor II (prothrombin) G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, and plasminogen activator inhibitor (PAI-1) 4G/5G. Of a total of 1448 genotypes tested in this study, there were 22 samples that gave different results between the Invader biplex assay and the PCR-based methods. On further testing, 21 were determined to be correctly genotyped by the Invader Assay and only a single discrepancy was resolved in favor of the PCR-based assays. The compiled results demonstrate that the Invader biplex assay provides results more than 99.9% concordant with standard PCR-based techniques and is a rapid and highly accurate alternative to target amplification-based methods.

Author List

Patnaik M, Dlott JS, Fontaine RN, Subbiah MT, Hessner MJ, Joyner KA, Ledford MR, Lau EC, Moehlenkamp C, Amos J, Zhang B, Williams TM

Author

Martin J. Hessner PhD Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

DNA
DNA Mutational Analysis
Factor V
Fluorescent Dyes
Genotype
Humans
Mass Spectrometry
Methylenetetrahydrofolate Reductase (NADPH2)
Plasminogen Activator Inhibitor 1
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Prothrombin
Reproducibility of Results
Sensitivity and Specificity
Spectrometry, Fluorescence
Venous Thrombosis