title: Evaluation of the GeneXpert assay in the detection of Factor V Leiden and prothrombin 20210 in stored, previously classified samples.
abstract: BACKGROUND
  In this study, we evaluated the GeneXpert HemosIL Factor II and Factor V assay, an innovative assay for the detection of Factor V Leiden (FVL) and prothrombin G20210A mutation (GPRO).
  
  
  METHODS
  We evaluated 132 patients that were previously classified (with a concordant result) using two commercial real-time PCR assays supplied, by Applied Biosystems and Roche Molecular Biochemicals. The cohort comprised 75 normal subjects, 10 FVL homozygous, 35 FVL heterozygous, 7 GPRO heterozygous, 2 GPRO homozygous and 3 double heterozygous FVL and GPRO subjects. All of the samples were evaluated using the GeneXpert HemosIL Factor II and Factor V assay.
  
  
  RESULTS
  All of the samples were correctly identified using the GeneXpert HemosIL Factor II and Factor V assay; therefore, in this patient series, the specificity and sensitivity of the test under evaluation was 1.00.
  
  
  CONCLUSIONS
  We have shown that the GeneXpert HemosIL Factor II and Factor V assay, a rapid fully automated assay, can accurately characterise the presence of FV G1691A and FII G20210A polymorphisms with specificity and sensitivity that are comparable to other current real-time PCR-based methods. The theoretical advantages of such an assay include improved standardisation across varying healthcare environments, more thorough sample manipulation and reduced human error.
authors.affiliation: Service of Laboratory Medicine, Chioggia, Venice, Italy. gianluca.gessoni@tin.it
authors.forename: G
authors.initials: G
authors.lastname: Gessoni
authors.forename: S
authors.initials: S
authors.lastname: Valverde
authors.forename: F
authors.initials: F
authors.lastname: Manoni
mesh_terms: D015331:Cohort Studies; D005165:Factor V / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D012016:Reference Values
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin