{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T05:09:53Z","timestamp":1700284193549},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,9,3]],"date-time":"2004-09-03T00:00:00Z","timestamp":1094169600000},"content-version":"vor","delay-in-days":246,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2004,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The role of inherited thrombophilias in the pathogenesis of thrombosis, and their relation to thromboembolic events and pregnancy complications, has escalated the demand for molecular testing. We employed the new Pronto\u00ae ThromboRisk\u2122 kit (Pronto Diagnostics Ltd., Rehovot, Israel), which is based on a novel primer\u2010extension ELISA assay, for the simultaneous detection of three genetic mutations. These are Factor V Leiden G1691A (R506Q), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T, which are known to have increased incidence in patients with thromboembolic events and pregnancy complications. We examined 284 randomly selected patient samples from the special coagulation hospital laboratory. The results using the new assay were compared to those obtained by routinely employed conventional molecular techniques. The ThromboRisk\u2122 kit provided identical results with no false\u2013negative results and with a high specificity of over 99% for all three mutations. We conclude that the Pronto\u00ae ThromboRisk\u2122 kit allows fast, precise, and reliable testing for the three genetic mutations. The assay is easy to perform and provides a useful tool for screening high risk populations, such as patients with a personal or family history of venous thromboembolism, women with pregnancy complications, or users of oral contraceptives. J. Clin. Lab. Anal. 18:259\u2013264, 2004. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/jcla.20034","type":"journal-article","created":{"date-parts":[[2004,9,14]],"date-time":"2004-09-14T07:44:24Z","timestamp":1095147864000},"page":"259-264","source":"Crossref","is-referenced-by-count":4,"title":["Pronto\u00ae ThromboRisk\u2122\u2014A novel primer\u2010extension ELISA based assay for the detection of mutations associated with increased risk for thrombophilia"],"prefix":"10.1002","volume":"18","author":[{"given":"Noga","family":"Carmi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dana","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eti","family":"Zvang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Naparstek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varda","family":"Deutsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,9,3]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/369064a0"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)80081-9"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199402243300801"},{"key":"e_1_2_1_5_2","first-page":"139","article-title":"Inherited resistance to activated protein C, a major cause of venous thrombosis, is due to a mutation in the factor V gene","volume":"24","author":"Dahlback B","year":"1994","journal-title":"Haemostasis"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1182\/blood.V85.6.1504.bloodjournal8561504","article-title":"High risk of thrombosis in patients homozygous for factor V Leiden (APC\u2010resistance)","volume":"85","author":"Rosendaal FR","year":"1995","journal-title":"Blood"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/00001721-200009000-00002"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)91803-5"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.92.10.2800"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(94)90286-0"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)91929-5"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)04125-6"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199901073400102"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200010053431405"},{"key":"e_1_2_1_15_2","first-page":"16","article-title":"Third trimester unexplained intra uterine fetal death and thrombophilia. 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