Evidence Table 1Quality of studies addressing Analytic Validity of Tests to Identify Factor V Leiden and Prothrombin G20210A Mutations

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Reference List
  1. Hessner MJ, Budish MA, Friedman KD. Genotyping of factor V G1691A (Leiden) without the use of PCR by invasive cleavage of oligonucleotide probes. Clin Chem 2000; 46(8 Pt 1):1051–6.
  2. Kowalski A, Radu D, Gold B. Colorimetric microwell plate detection of the factor V Leiden mutation. Clin Chem 2000; 46(8 Pt 1):1195–8.
  3. Ledford M, Friedman KD, Hessner MJ, Moehlenkamp C, Williams TM, Larson RS. A multi-site study for detection of the factor V (Leiden) mutation from genomic DNA using a homogeneous invader microtiter plate fluorescence resonance energy transfer (FRET) assay. J Mol Diagn 2000; 2(2):97–104.
  4. Nauck M, Marz W, Wieland H. Evaluation of the Roche diagnostics LightCycler-Factor V Leiden Mutation Detection Kit and the LightCycler-Prothrombin Mutation Detection Kit. Clin Biochem 2000; 33(3):213–6.
  5. Pecheniuk NM, Marsh NA, Walsh TP. Multiple analysis of three common genetic alterations associated with thrombophilia. Blood Coagul Fibrinolysis 2000; 11(2):183–9.
  6. Sanders Sevall J. Factor V Leiden genotyping using real-time fluorescent polymerase chain reaction. Mol Cell Probes 2000; 14(4):249–53.
  7. Benson JM, Ellingsen D, El-Jamil M et al. Factor V Leiden and factor V R2 allele: high-throughput analysis and association with venous thromboembolism. Thromb Haemost 2001; 86(5):1188–92.
  8. Crockett AO, Wittwer CT. Fluorescein-labeled oligonucleotides for real-time pcr: using the inherent quenching of deoxyguanosine nucleotides. Anal Biochem 2001; 290(1):89–97.
  9. Humeny A, Bonk T, Berkholz A, Wildt L, Becker CM. Genotyping of thrombotic risk factors by MALDI-TOF mass spectrometry. Clin Biochem 2001; 34(7):531–6.
  10. Parks SB, Popovich BW, Press RD. Real-time polymerase chain reaction with fluorescent hybridization probes for the detection of prevalent mutations causing common thrombophilic and iron overload phenotypes. Am J Clin Pathol 2001; 115(3):439–47.
  11. Potter CG, Liu YT, Rees DC. Factor V Leiden mutation screened by PCR and detected with lanthanide-labeled probes. Genet Test 2001; 5(4):291–7.
  12. Reyes AA, Ugozzoli LA, Lowery JD et al. Linked linear amplification: a new method for the amplification of DNA. Clin Chem 2001; 47(1):31–40.
  13. Rhodes RB, Lewis K, Shultz J et al. Analysis of the factor V Leiden mutation using the READIT Assay. Mol Diagn 2001; 6(1):55–61.
  14. Tsongalis GJ, Rainey BJ, Hodges KA. READIT: a novel technology used in the interrogation of nucleic acid sequences for single-nucleotide polymorphisms. Exp Mol Pathol 2001; 71(3):222–5.
  15. Evans JG, Lee-Tataseo C. Determination of the factor V Leiden single-nucleotide polymorphism in a commercial clinical laboratory by use of NanoChip microelectronic array technology. Clin Chem 2002; 48(9):1406–11.
  16. Huang TJ, Liu M, Knight LD, Grody WW, Miller JF, Ho CM. An electrochemical detection scheme for identification of single nucleotide polymorphisms using hairpin-forming probes. Nucleic Acids Res 2002; 30(12):e55.
  17. Hung K, Sun X, Ding H, Kalafatis M, Simioni P, Guo B. A matrix-assisted laser desorption/ionization time-of-flight based method for screening the 1691G --> A mutation in the factor V gene. Blood Coagul Fibrinolysis 2002; 13(2):117–22.
  18. Ozkan D, Erdem A, Kara P et al. Allele-specific genotype detection of factor V Leiden mutation from polymerase chain reaction amplicons based on label-free electrochemical genosensor. Anal Chem 2002; 74(23):5931–6.
  19. Alsmadi OA, Bornarth CJ, Song W et al. High accuracy genotyping directly from genomic DNA using a rolling circle amplification based assay. BMC Genomics 2003; 4(1):21.
  20. Cooper PC, Cooper SM, Smith JM, Kitchen S, Makris M. Evaluation of the Roche LightCycler: a simple and rapid method for direct detection of factor V Leiden and prothrombin G20210A genotypes from blood samples without the need for DNA extraction. Blood Coagul Fibrinolysis 2003; 14(5):499–503.
  21. El Housni H, Heimann P, Parma J, Vassart G. Single-nucleotide polymorphism genotyping by melting analysis of dual-labeled probes: examples using factor V Leiden and prothrombin 20210A mutations. Clin Chem 2003; 49(10):1669–72.
  22. Moser MJ, Marshall DJ, Grenier JK et al. Exploiting the enzymatic recognition of an unnatural base pair to develop a universal genetic analysis system. Clin Chem 2003; 49(3):407–14.
  23. Murphy K, Hafez M, Philips J, Yarnell K, Gutshall K, Berg K. Evaluation of temperature gradient capillary electrophoresis for detection of the Factor V Leiden mutation: coincident identification of a novel polymorphism in Factor V. Mol Diagn 2003; 7(1):35–40.
  24. Ozsoz M, Erdem A, Kerman K et al. Electrochemical genosensor based on colloidal gold nanoparticles for the detection of Factor V Leiden mutation using disposable pencil graphite electrodes. Anal Chem 2003; 75(9):2181–7.
  25. Schroell-Metzger B, Dicato M, Bosseler M, Berchem G. Comparison of standard PCR and the LightCycler technique to determine the thrombophilic mutations: an efficiency and cost study. Clin Chem Lab Med 2003; 41(4):482–5.
  26. Simundic AM, Topic E, Stefanovic M. Detection of factor V Leiden by PCR-SSCP using GMA precast Elchrom scientific gels. Clin Appl Thromb Hemost 2003; 9(3):227–31.
  27. Vaughn CP, Elenitoba-Johnson KS. Hybridization-induced dequenching of fluorescein-labeled oligonucleotides: a novel strategy for PCR detection and genotyping. Am J Pathol 2003; 163(1):29–35.
  28. Behrens M, Lange R. A highly reproducible and economically competitive SNP analysis of several well characterized human mutations. Clin Lab 2004; 50(5–6):305–16.
  29. French C, Li C, Strom C et al. Detection of the factor V Leiden mutation by a modified photo-cross-linking oligonucleotide hybridization assay. Clin Chem 2004; 50(2):296–305.
  30. Liew M, Pryor R, Palais R et al. Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons. Clin Chem 2004; 50(7):1156–64.
  31. Louis M, Dekairelle AF, Gala JL. Rapid combined genotyping of factor V, prothrombin and methylenetetrahydrofolate reductase single nucleotide polymorphisms using minor groove binding DNA oligonucleotides (MGB probes) and real-time polymerase chain reaction. Clin Chem Lab Med 2004; 42(12):1364–9.
  32. Angeline T, Bentley HA, Hawk AB et al. Prevalence of the Factor V G1691A and the Factor II/prothrombin G20210A gene polymorphisms among Tamilians. Exp Mol Pathol 2005; 79(1):9–13.
  33. Castley A, Higgins M, Ivey J, Mamotte C, Sayer DC, Christiansen FT. Clinical applications of whole-blood PCR with real-time instrumentation. Clin Chem 2005; 51(11):2025–30.
  34. Mammo L, Sheereen A, Saour T, Saour J. Comparative study between the Light Cycler and the PCR-restriction fragment length polymorphism in detecting factor V Leiden and factor II 20210G>A mutations. Clin Biochem 2006; 39(7):767–9.
  35. Bravo-Osorio M, Bydlowski SP. Detection of methylenetetrahydrofolate reductase (MTHFR) C677T and prothrombin G20210A mutations: second restriction site for digestion control of PCR products. Clin Chim Acta 2000; 301(1–2):219–23.
  36. Happich D, Madlener K, Schwaab R, Hanfland P, Potzsch B. Application of the TaqMan-PCR for genotyping of the prothrombin G20210A mutation and of the thermolabile methylenetetrahydrofolate reductase mutation. Thromb Haemost 2000; 84(1):144–5.
  37. Meyer M, Kutscher G, Vogel G. The prothrombin nt20210 A allele as a risk factor for venous thromboembolism: detection of heterozygous and homozygous carriers by alternative methods. Thromb Res 2000; 97(5):359–63.
  38. Gellings A, Holzem G, Wielckens K, Klingler KR. Prothrombin mutation: Employing the electrochemiluminescence technology of the elecsys(registered trademark) system for the detection of the point mutation at position 20210 in the 3′ untranslated region of the prothrombin gene: PROTHROMBIN MUTATION: VERWENDUNG DER ELEKTROCHEMILUMINESZENZTECHNOLOGIE DES ELECSYS(registered trademark) SYSTEMS ZUR DETEKTION DER PUNKTMUTATION AN DER POSITION 20210 IN DER 3′ UNTRANSLATIERTEN. LaboratoriumsMedizin 2001; 25(1–2):26–30.
  39. Gilchrist A, Solomon N, Erickson D et al. Automated detection of the G20210A prothrombin mutation using the LCx microparticle enzyme immunoassay. Clin Chim Acta 2001; 314(1–2):249–54.
  40. Hessner MJ, Friedman KD, Voelkerding KV et al. Multisite study for genotyping of the factor II (prothrombin) G20210A mutation by the invader assay. Clin Chem 2001; 47(11):2048–50.
  41. Huber S, McMaster KJ, Voelkerding KV. Analytical evaluation of primer engineered multiplex polymerase chain reaction-restriction fragment length polymorphism for detection of factor V Leiden and prothrombin G20210A. J Mol Diagn 2000; 2(3):153–7.
  42. Leyte A, Smits PH, van Straalen JP, van Doorn LJ, Quint WG. Automated, simultaneous detection of the factor V Leiden and prothrombin (G20210A) variants using multiplex PCR and a line probe assay. Thromb Haemost 2000; 83(2):354–5.
  43. van den Bergh FA, van Oeveren-Dybicz AM, Bon MA. Rapid single-tube genotyping of the factor V Leiden and prothrombin mutations by real-time PCR using dual-color detection. Clin Chem 2000; 46(8 Pt 1):1191–5.
  44. DelRio-LaFreniere SA, McGlennen RC. Simultaneous allele-specific amplification: a strategy using modified primer-template mismatches for SNP detection--application to prothrombin 20210A (factor II) and factor V Leiden (1691A) gene mutations. Mol Diagn 2001; 6(3):201–9.
  45. Endler G, Kyrle PA, Eichinger S, Exner M, Mannhalter C. Multiplexed mutagenically separated PCR: simultaneous single-tube detection of the factor V R506Q (G1691A), the prothrombin G20210A, and the methylenetetrahydrofolate reductase A223V (C677T) variants. Clin Chem 2001; 47(2):333–5.
  46. Ameziane N, Lamotte M, Lamoril J et al. Combined factor V leiden (G1691A) and prothrombin (G20210A) genotyping by multiplex real-time polymerase chain reaction using fluorescent resonance energy transfer hybridization probes on the Rotor-Gene 2000. Blood Coagul Fibrinolysis 2003; 14(4):421–4.
  47. Erali M, Schmidt B, Lyon E, Wittwer C. Evaluation of electronic microarrays for genotyping factor V, factor II, and MTHFR. Clin Chem 2003; 49(5):732–9.
  48. Lucotte G, Champenois T. Duplex PCR-RFLP for simultaneous detection of factor V Leiden and prothrombin G20210A. Mol Cell Probes 2003; 17(5):267–9.
  49. Neitzel B, Matern C, Holinski-Feder E. Easy, accurate and reliable screening for SNPs by ion pair/reverse phase HPLC: simultaneous detection of factor V G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase C677T variants. Clin Lab 2003; 49(7–8):313–8.
  50. Schrijver I, Lay MJ, Zehnder JL. Diagnostic single nucleotide polymorphism analysis of factor V Leiden and prothrombin 20210G > A. A comparison of the Nanogen Eelectronic Microarray with restriction enzyme digestion and the Roche LightCycler. Am J Clin Pathol 2003; 119(4):490–6.
  51. Baris I, Koksal V, Etlik O. Multiplex PCR-RFLP assay for detection of factor V Leiden and prothrombin G20210A. Genet Test 2004; 8(4):381–3.
  52. Carmi N, Cohen D, Zvang E, Naparstek E, Deutsch V. Pronto ThromboRisk--a novel primer-extension ELISA based assay for the detection of mutations associated with increased risk for thrombophilia. J Clin Lab Anal 2004; 18(5):259–64.
  53. Patnaik M, Dlott JS, Fontaine RN et al. Detection of genomic polymorphisms associated with venous thrombosis using the invader biplex assay. J Mol Diagn 2004; 6(2):137–44.
  54. Ugozzoli LA, Hamby K. Four-color multiplex 5′ nuclease assay for the simultaneous detection of the factor V Leiden and the prothrombin G20210A mutations. Mol Cell Probes 2004; 18(3):161–6.
  55. Hobson-Peters J, Toye P. A whole-blood homogeneous assay for the multiplex detection of the factor V G1691A and the prothrombin G20210A mutations. Mol Cell Probes 2005; 19(4):290–7.
  56. Koksal V, Baris I, Etlik O. Primer-engineered multiplex PCR-RFLP for detection of MTHFR C677T, prothrombin G20210A and factor V Leiden mutations. Exp Mol Pathol 2007; 83(1):1–3.
  57. Lopez M, Giraldo P, Alvarez P et al. Multiplex assay for genetic testing of thrombophilia: a method for routine clinical care. J Clin Lab Anal 2007; 21(6):349–55.
  58. Hertzberg M, Neville S, Favaloro E, McDonald D. External quality assurance of DNA testing for thrombophilia mutations. Am J Clin Pathol 2005; 123(2):189–93.
  59. Jennings I, Kitchen S, Woods TA, Preston FE. Multilaboratory testing in thrombophilia through the United Kingdom National External Quality Assessment Scheme (Blood Coagulation) Quality Assurance Program. Semin Thromb Hemost 2005; 31(1):66–72.
  60. Tripodi A, Chantarangkul V, Menegatti M, Tagliabue L, Peyvandi F. Performance of clinical laboratories for DNA analyses to detect thrombophilia mutations. Clin Chem 2005; 51(7):1310–1.

From: Appendix G, Evidence Tables

Cover of Outcomes of Genetic Testing in Adults with a History of Venous Thromboembolism
Outcomes of Genetic Testing in Adults with a History of Venous Thromboembolism.
Evidence Reports/Technology Assessments, No. 180.
Segal JB, Brotman DJ, Emadi A, et al.

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