Factor v leiden mutation factor v leiden 01 result. The factor v leiden apctm resistance v kit consists of. R506q is a variant mutated form of human factor v one of several substances that helps blood clot, which causes an increase in blood clotting hypercoagulability. The diagnosis of factor v leiden is made by a blood test. Activated protein c resistance testing for factor v leiden. Because the fvl variant eliminates the apc cleavage site, factor v is inactivated slower, thus persisting longer in. This test detects the factor v r506q leiden mutation and will help identify those individuals who are at increased risk of thrombosis.
Factor v leiden mutation testing is not recommended as a routine test before or during oral contraceptive use or hormone replacement therapy in the absence of additional indications. Factor v leiden fvl is the most common hereditary blood coagulation disorder in the united states. Genes are our bodys instructions for making proteins. When a clot does form, the clot most often occurs in your leg deep venous thrombosis or dvt or lungs pulmonary embolism or pe. Using push health, you can easily request a factor v leiden g1691a mutation test from a licensed medical provider, get tested at a lab near you, and get results electronically. Venous thrombosis is supposed to be multigenic, and it is believed that onethird of people with inherited thrombosis can have two or more genetic defects. All human chromosomes come in pairs, during factor v leiden mutation either one of them can be affected heterozygous carrier or both are affected homozygous carrier. Contractor information back to top lcd information document information printed on 4182016. Factot v leiden mutation can be associated with intrauterine fetal demise and. Prothrombin gene mutation, methylenetetrahydrofolate reductase mthfr andor factor v leiden testing can be performed on the same 1 x 4ml edta tube. The factor v leiden fvl mutation is the most prevalent inheritable risk factor for venous thromboembolism vte 1.
Factor v leiden is a type of thrombophilia caused by a faulty gene. Factor v leiden mutation and pt 20210 mutation lab tests online. This test provides information to determine whether. Individuals born with fvl are more likely to develop vein clots. Specimen required defines the optimal specimen required to perform the test and the preferred volume to complete testing. Individuals who are heterozygous for fvl have a 28 fold risk of. Which of the following is not at an increased risk for women with factor v leiden mutations.
Factor v leiden increases risks for many health problems. Factor v, r2 variant indications for diseaseordering to further clarify thrombotic risk for individuals who are known factor v leiden fvl heterozygotes individual may be taking anticoagulants no interference with test results test description polymerase chain reaction pcr tests to consider primary test. Another interesting field of potential application for fvl testing, of particular interest to this journals readership, is the selection of blood donors 23, since knowledge of fvl status could in theory influence suitability for blood donation. The factor v leiden test is a blood test that checks for the factor v leiden mutation. The two tests are often performed together to help determine if an individual has an inherited risk for excessive. This mutation leads to reduced inactivation of clotting factor v by. Negative no mutation found factor v leiden is a specific mutation r506q in the factor v gene that is associated with an increased risk of venous thrombosis. Jul 05, 2019 this screening test has a sensitivity and specificity for factor v leiden approaching 100%. It increases the risk of developing a dvt at some point in life, but the majority of carriers of the gene are never affected. Factor v leiden faktur five liden is a mutation of one of the clotting factors in the blood.
Factor xa inhibitors such as rivaroxaban and direct thrombin inhibitors including dabigatran, argatroban, and bivalirudin can cause falsely normal results. Doctors generally prescribe bloodthinning medications to treat people who develop abnormal blood clots. Clinical appropriateness guidelines genetic testing for. Still, it is estimated that 95% of people with factor v leiden never develop a clot. Factor v circulates in plasma as a single chain molecule. To test or not to test, that is the debate article pdf available in blood transfusion trasfusione del sangue 103.
Heterozygous carriers of fvl have an approximately 3 to 5fold increased risk of vte, whereas the risk in homozygous carriers is estimated to be up to 80fold higher than that in subjects without fvl. Please collect a separate dedicated 1 x 4ml edta tube for factor v leiden testing unless prothrombin gene mutation andor methylenetetrahydrofolate reductase mthfr are also requested. Your doctor may suspect factor v leiden if youve had one or more episodes of abnormal blood clotting or if you have a strong family history of abnormal blood clots. Factor v leiden test factor v blood test push health. Your doctor can confirm that you have factor v leiden with a blood test. Factor v leiden thrombophilia is caused by a specific mutation in the f5 or factor v gene. Caucasians carry one copy of the factor v leiden mutation and about 1 in 5,000 people have two copies of the mutation. Factor v leiden thrombophilia genetic and rare diseases. Usefulness of factor v leiden mutation testing in clinical. Factor v leiden mutation and pt 20210 mutation labcorp.
Factor v leiden is a point mutation in factor v that renders factor v resistant to breakdown by activated protein c r506q, and prothrombin g20210a is a mutation in the noncoding region of the prothrombin gene that results in increased protein synthesis prothrombin levels of 110% to 120%. The factor v leiden mutation abolishes one of the two mn l i. Factor v factor five is a protein involved in the blood clotting process. The factor v leiden fv leiden mutation is a dna substitution g1691a that changes the amino acid encoded at one of these three sites r506q. Factor v leiden is the most common genetic predisposition to blood clots. Children born with factor v leiden produce a mutated form of factor v that does not respond well to activated protein c.
Not for use in diagnostic procedures for clinical purposes. Initially, a screening test may be done to determine if you have apc resistance. Factor v f5 is protein in the blood clotting system that enables various metabolic processes which cause blood clotting. People with factor v leiden thrombophilia have a higher than average risk of developing a type.
People can have one abnormal gene referred to as heterozygous state or carrier state or two abnormal genes referred to as homozygous state. Factor v is a protein involved in blood clotting and the factor v leiden gene change also called mutation is linked to an increase risk of blood clots. Factor v leiden diagnosis and treatment mayo clinic. For example, individuals homozygous for fvl or with double heterozygosity for fvl and another inherited. Factor v leiden mutation is an inherited condition i. Factor v leiden test is essential for anyone with a family history of this condition, or who has thrombosis. This is a noncoverage policy for genetic testing for thrombophilia testing for the factor v leiden fvl variant in the f5 gene, the g20210ga g20210a variant in the f2 gene, and the mthfr gene which encodes the 5,10. Factor v leiden is a common change in a gene that controls a protein called factor v. The factor v leiden mutation abolishes one of the two mn l i restriction sites present in the pcr product. This test provides information to determine whether hemostatic disorders conditions that impair. If you have factor v leiden, you have a greater chance of developing blood clots. Factor v leiden is a variant of the protein factor v 5, which is needed. For more information, see apcrv activated protein c resistance v apcrv, plasma or apcrr activated protein c resistance v apcrv, with reflex to factor v leiden, plasma. Factor v leiden is thus a weak risk factor for developing blood clots.
Factor v leiden thrombophilia is an inherited disorder of blood clotting. The size of pcr amplified product before mnl i digestion is 307 bp. The detection rate for genotyping is virtually 100%. Factor v leiden is a point mutation in factor v that renders factor v resistant to breakdown by activated protein c r506q, and prothrombin g20210a is a mutation in the noncoding region of the prothrombin gene that results in increased protein synthesis prothrombin levels of. Factor v leiden is a specific mutation r506q the factor v gene that is associated with an increased risk of venous thrombosis. Mthac 5,10methylenetetrahydrofolate reductase a1298c, mutation, blood ptnt prothrombin g20210a. Factor v leiden is more resistant to inactivation by activated protein c. May, 2014 factor v leiden fvl mutation named after the dutch university where it was discovered is a point mutation in the gene for clotting factor v. But in people who do, these abnormal clots can lead to longterm health.
Due to this mutation, protein c, an anticoagulant protein which normally inhibits the proclotting activity of factor v, is not able to bind. Test information factor v leiden genotyping looks specifically for the leiden variant 1691ga. Request pdf factor v leiden factor v leiden fvleiden is a common hereditary thrombophilia that causes activated protein c apc resistance. Coagulation factor v is involved in a series of chemical reactions that hold blood clots together. Factor v leiden lab test description the bodys ability to form blood clots is critical to the healing process and when the coagulation clotting process is functioning normally platelets small, sticky cell fragments attach to and begin to collect at the injury site.
Its the most common type of inherited thrombophilia, and tends to be seen in white europeans and americans. Most people with factor v leiden never develop abnormal clots. This is when your blood thickens and forms a clot in a vein. If you have the heterozygous form of factor v leiden. F5 plays a critical role in the formation of blood clots in response to injury. As a result, factor v persists in the circulation leading eo a mild hyper coagulable state. Jul 19, 2018 factor v leiden faktur five liden is a mutation of one of the clotting factors in the blood. It binds to activated platelets and is activated by thrombin dahlback et al. It has autosomal dominant inheritance and is the most common cause of inherited thrombophilia. Factor v leiden thrombophilia genetics home reference nih. Apc cannot cleave fv leiden efficiently, thus fv leiden is resistant to apc, resulting in a hypercoagulable state. When functioning normally, factor v helps the clotting system form clots that stop abnormal bleeding throughout the body. Factor v leiden detection by polymerase chain reaction.
Pdf resistance to activated protein c resulting from the genetic point mutation known as factor v leiden is the most frequently found genetic risk. Factor v leiden thrombophilia is a genetic disorder that makes it more likely for you to develop a blood clot sometime during your life. Homozygous factor v leiden increases the risk of developing clots to a greater degree, about 25 to 50fold. This mutation can increase your chance of developing abnormal blood clots, most commonly in your legs or lungs.
Factor v leiden can also raise your chances of other problems and conditions. R506q in the f5 gene is the most common known inherited risk factor for thrombosis. The sensitivity of a test is a measure of the test s ability to detect a positive result when someone has the condition, while the specificity is a measure of the test s ability to identify negative results. Factor v leiden f5 r506q mutation arup lab test directory. F5 instructs the body how to make a protein called coagulation factor v. Genetic testing for hypercoagulability thrombophilia factor v leiden, factor ii prothrombin, and mthfr l36089 links in pdf documents are not guaranteed to work. Factor v leiden g1691a, r506q genemer for research use only. The factor v leiden protein is harder to turn off than the normal factor v protein. Nov 14, 2010 factor v leiden is a genetic disorder characterized by a poor anticoagulant response to activated protein c and an increased risk for venous thromboembolism. This makes blood clots more likely to form, a condition called thrombophilia. Hemosil factor v leiden apc resistance v 0020008700. To diagnose factor v leiden, a coagulation screening test is ordered. Can be combined with other molecular coagulation tests. Factor v leiden mutation is the most common inherited predisposition to excessive clotting in the united states and it is most common in the caucasian population.
Factor v leiden and prothrombin 20210 pt 20210 or factor ii mutation are genetic mutations that are associated with an increased risk of developing inappropriate blood clots. Because factor v leiden is only one of several causes of apc resistance, you may have a dna test also done on the blood to see if you have factor v leiden if your blood shows apc resistance. Activated protein c resistance assays can detect factor v leiden with high accuracy, depending on the method used. These mutations are tested by two separate tests that evaluate a persons dna to look for the mutations. Factor v leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels. This test was developed, and its performance characteristics determined, by.
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