Member area login
You don't have or don't remember the password!
Click Here
Editor-in-chief
Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

EIC Assistant
Francesco Busardò

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada


Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Chiara Riva
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it

--------------------

ISSN print: 0393 – 0564
ISSN digital: 0392- 7091



BC: Articoli scritti da F. Marangon

Field evaluation of the GeneXpert system for detection of thrombophilia associated mutations: a six-month experience in a small laboratory
<p>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.</p>
Biochimica Clinica ; 36(1) 20-24
Contributi Scientifici - Scientific Papers