Performance of clinical laboratories for DNA analyses to detect thrombophilia mutations [12]

Clinical Chemistry

Volumn 51, Issue 7, 2005, Pages 1310-1311

  Tripodi, Armando ^a   Chantarangkul, Veena ^a   Menegatti, Marzia ^a   Tagliabue, Liliana ^a   Peyvandi, Flora ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5; DNA; PROTHROMBIN; BLOOD CLOTTING FACTOR 5 LEIDEN; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

CLINICAL LABORATORY; DNA DETERMINATION; GENE MUTATION; GENOTYPE; HEALTH SURVEY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; PERFORMANCE; THROMBOPHILIA; BLOOD; CLINICAL CHEMISTRY; GENETICS; INFORMATION PROCESSING; LABORATORY; LABORATORY DIAGNOSIS; MUTATION; STANDARD;

CLINICAL CHEMISTRY TESTS; DATA COLLECTION; DNA; FACTOR V; FALSE NEGATIVE REACTIONS; FALSE POSITIVE REACTIONS; GENOTYPE; HUMANS; LABORATORIES; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; PROTHROMBIN; THROMBOPHILIA;

EID: 23444443881     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.049981     Document Type: Letter

References (7)

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3. Preston FE, Kitchen S, Jennings I, Woods TAL. A UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing for the diagnosis of familial thrombophilia. Thromb Haemost 1999;82:1556-7.
4. Tripodi A, Peyvandi F, Chantarangkul V, Menegatti M, Mannucci PM. Relatively poor performance of clinical laboratories for DNA analyses in the detection of two thrombophilic mutations-a cause for concern. Thromb Haemost 2002;88:690-1.
5. Tosetto A, Missiaglia E, Frezzato M, Rodeghiero f. The VITA project: C677T mutation in the methylene-tetrahydrofolate reductase gene and risk of venous thromboembolism. Br J Haematol 1997;97:804-6.
6. Brown K, Luddington R, Baglin T. Effect of the MTHFRC677T variant on risk of venous thromboembolism: interaction with factor V Leiden and prothrombin (F2G20210A) mutations. Br J Haematol 1998;103:42-4.
7. Frederiksen J, Juul K. Grande P, Jensen GB, Schroeder TV, Tybjaerg-Hansen A, et al. Methylenetetrahydrofolate reductase polymorphism (C677T), hyperhomocysteinemia, and risk of ischemic cardiovascular disease and venous thromboembolism: prospective and case-control studies from the Copenhagen City Heart Study. Blood 2004;104:3046-51.