English 
Italian CONTRIBUTI SCIENTIFICI – Scientific Papers
Volume:
Biochimica Clinica 2012; 36(1) 20-24
Published on-line:
DOI:
Field evaluation of the GeneXpert system for detection of thrombophilia associated mutations: a six-month experience in a small laboratory
AUTHORS
1Transfusional Service, 2Service of Laboratory Medicine, and 3Service of Oncology and Hematology, Ospedale Civile, Chioggia, VE
4Service of Laboratory Medicine, Ospedale Civile, Monselice, PD
ABSTRACT
Factor V Leiden G1691A mutation (FVL) and prothrombin G20210A mutation (GPro) are the most common inherited mutations associated with thrombophilia. GeneXpert HemosIL Factor II and Factor V assay is a fully automated assay that is able, in less than 35 min, to allow simultaneous detection of FVL and GPro. Test format, based upon single test cartridge, was designed to minimize waste and to permit daily analytical sessions. In this study we evaluated the performance of GeneXpert system in detection of FVL and GPro mutations. 211 consecutive patients, enrolled from March to August 2011, were studied. All samples were evaluated by using the GeneXpert system in comparison with Roche Light Cycler assay. By using both assays, 51 FVL heterozygous, 3 FVL homozygous, 1 GPro homozygous, 10 GPro heterozygous, 5 combined FVL-GPro heterozygous and 141 normal subjects were identified, with a 100% concordance between the two assays. During six months we observed 15 invalid sample results using GeneXpert (7.1%) that were retested after dilution. Consequently, the tests/results ratio was 1.07. In our experience, the assay was therefore affordable and characterized by a good rate between number of carried out tests and released results.