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F5 (Factor V) Leiden Gene Mutation Analysis Bookmark and Share

F5 (Factor V) Leiden Gene Mutation Analysis

The factor V Leiden mutation, also designated as 1691 G>A or R506Q, is the major heritable risk factor for venous thromboembolism 1,2. This mutation in the coagulation factor V gene results in resistance of factor V to inactivation by activated protein C (APC)3-5. Approximately 5% of Caucasians are either heterozygous carriers or homozygous for the factor V Leiden mutation; the prevalences are lower for other ethnic groups 6,7.

To open a printable assay summary in a new window, click the link below.
 
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

Please submit the Test Request Form (TRF).

References
1. Voorberg, J. et al. (1994). Lancet 343:1535-1536.
2. Zoller, B. and Dahlback, B. (1994). Lancet 343:1536-1538.
3. Bertina, R. M. et al. (1994). Nature 369:64-67.
4. Greengard, J. S. et al. (1994). Lancet 343:1361-1362.
5. Sun, X. et al. (1994). Blood 83:3120-3125.
6. Gregg, J. P. et al. (1997). American Journal of Medical Genetics 73:334-336.
7. Ridker, P. M. et al. (1997). JAMA 277:1305-1307.

 

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F5 (Factor V) Leiden Gene Mutation Analysis

F5 (Factor V) Leiden Gene Mutation Analysis

The factor V Leiden mutation, also designated as 1691 G>A or R506Q, is the major heritable risk factor for venous thromboembolism 1,2. This mutation in the coagulation factor V gene results in resistance of factor V to inactivation by activated protein C (APC)3-5. Approximately 5% of Caucasians are either heterozygous carriers or homozygous for the factor V Leiden mutation; the prevalences are lower for other ethnic groups 6,7.

To open a printable assay summary in a new window, click the link below.
 
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

Please submit the Test Request Form (TRF).

References
1. Voorberg, J. et al. (1994). Lancet 343:1535-1536.
2. Zoller, B. and Dahlback, B. (1994). Lancet 343:1536-1538.
3. Bertina, R. M. et al. (1994). Nature 369:64-67.
4. Greengard, J. S. et al. (1994). Lancet 343:1361-1362.
5. Sun, X. et al. (1994). Blood 83:3120-3125.
6. Gregg, J. P. et al. (1997). American Journal of Medical Genetics 73:334-336.
7. Ridker, P. M. et al. (1997). JAMA 277:1305-1307.

 

Back to the List of Services

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