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         Factor V Leiden:     more detail
  1. Stroke after Marijuana smoking in a teenager with factor V Leiden mutation.(Brief Article): An article from: Southern Medical Journal by Mark A. Marinella, 2001-12-01
  2. Estrogen use with factor V Leiden not advised.(Women's Health)(Clinical report): An article from: Internal Medicine News by Colin Nelson, 2006-08-15
  3. Factor V Leiden genetic variant in an American Indian population.(COMMUNICATIONS--PROFESSIONAL): An article from: Proceedings of the North Dakota Academy of Science by Melanie Nadeau, Sheri T. Dorsam, et all 2007-04-01
  4. Genetic Polymorphisms: Single Nucleotide Polymorphisms, 5-Httlpr, Factor V Leiden, Rs6265, Rs6313, Rs6295, Rs5569, Rs6311, Rs6314, Rs7997012
  5. Single Nucleotide Polymorphisms: Factor V Leiden, Rs6265, Rs6313, Rs6295, Rs5569, Rs6311, Rs6314, Rs7997012, Rs1805054, Rs4680, Rs1801133
  6. Factor V Leiden thrombophilia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Dawn, MS, CGC Jacob, 2005
  7. Blood Proteins: Hemoglobin, Hemocyanin, Glycated Hemoglobin, Haptoglobin, Human Serum Albumin, Fibrin, Factor V Leiden
  8. Factor V Leiden as a common genetic risk factor for venous thromboembolism.(Genomics to Health): An article from: Journal of Nursing Scholarship by McDonald K., III Horne, Donna Jo McCloskey, 2006-03-22
  9. Factor V Leiden

41. ARUP Factor V Leiden By PCR Fluorescence Monitoring
factor v leiden by PCR Fluorescence Monitoring Reference Interval. Negative This sample is negative for factor v leiden, R506Q mutation.
http://www.aruplab.com/guides/ug/tests/0097720.jsp

42. About Thrombosis: Thrombophilia: Congenital Thrombophilia: Factor V Leiden
factor v leiden is by far the most common congenital thrombophilia. factor v leiden is caused by a change in the gene for Factor V, which helps the
http://www.thrombosis-charity.org.uk/aboutthrom_thrombophilia_congenital_factorV
site map home contact us About thrombosis ...
Congenital thrombophilia

Factor V Leiden
Prothrombin 20210

Protein C deficiency

Protein S deficiency

Antithrombin deficiency
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Acquired thrombophilia

Factor V Leiden Factor V Leiden is by far the most common congenital thrombophilia. In the UK it is present in 1 in 20 individuals of Eu ropean origin. It is rare in people of black or Asian origin. Factor V Leiden is caused by a change in the gene for Factor V, which helps the blood to clot. To stop a clot spreading a natural blood thinner, known as Protein C, breaks down factor V. If someone has Factor V Leiden, the factor V molecule in the blood is more resistant to being broken down and the clotting process goes on for longer. This makes individuals with this condition more prone to blood clots, leading to venous thrombosis The risk of venous thrombosis is about eight times greater in indi viduals with Factor V Leiden than for those without it. However Factor V Leiden does not increase the risk of arterial thrombosis, so there is no increased risk of heart attacks or strokes. Inheritance
A single dose is known as heterozygous Factor V Leiden.

43. Armed Forces Institute Of Pathology (AFIP) - Welcome
The sensitivity and specificity of factor v leiden mutation detection are each factor v leiden testing is useful in determining predisposition to
http://www.afip.org/Departments/cell/Factor-V-Leiden.html
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DIVISION OF MOLECULAR PATHOLOGY Factor V Leiden Submit Five ml of blood in sodium citrate or EDTA anticoagulant (light blue or lavender top tube) Methodology The ThirdWave Invader assay is used to detect a portion of the factor V gene which contains the mutation site. The sensitivity and specificity of Factor V Leiden mutation detection are each believed to exceed 99%. Indications for Testing According to the American College of Medical Genetics, testing for Factor V Leiden is appropriate in the following circumstances:
  • Venous thrombosis in unusual sites (such as hepatic, mesenteric, and cerebral veins). Recurrent venous thrombosis. Venous thrombosis and a strong family history of thrombotic disease. Venous thrombosis in pregnant women or women taking oral contraceptives. Relatives of individuals with venous thrombosis under age 50. Myocardial infarction in female smokers under age 50.
Testing may also be appropriate in other situations. Clinical Significance Factor V Leiden mutations have also been linked with thrombotic events other than deep-venous thrombosis, including recurrent miscarriage. In addition, there may be interactions with other risk factors for thrombosis, including use of oral contraceptives, pregnancy, and immobilization.

44. UpToDate Activated Protein C Resistance And Factor V Leiden
factor v leiden is the most common cause of the syndrome accounting for 40 to 50 percent of cases. The prothrombin gene mutation, deficiencies in protein S,
http://patients.uptodate.com/topic.asp?file=coagulat/4883

45. Class II Special Controls Guidance Document: Factor V Leiden DNA Mutation Detect
Guidance factor v leiden DNA Mutation Detection Systems.
http://www.fda.gov/cdrh/oivd/guidance/1236.html
FDA Home Page CDRH Home Page Search CDRH A-Z Index ... Contact CDRH
Guidance for Industry and FDA Staff
Class II Special Controls Guidance Document:
Factor V Leiden DNA Mutation Detection Systems
Document issued on: March 16, 2004
For questions regarding this guidance, contact Elizabeth Mansfield at (301) 594-1293, ext. 168
U.S. Department of Health and Human Services
Food and Drug Administration
Center for Devices and Radiological Health Division of Immunology and Hematology Devices
Office of In Vitro Diagnostic Device Evaluation and Safety
Contains Nonbinding Recommendations
Preface
Public Comment:
Written comments and suggestions may be submitted at any time for Agency consideration to the Division of Dockets Management, Food and Drug Administration, 5630 Fishers Lane, Room 1061, (HFA-305), Rockville, MD, 20852. Alternatively, electronic comments may be submitted to http://www.fda.gov/dockets/ecomments. Please identify your comments with the docket number listed in the notice of availability that publishes in the Federal Register announcing the availability of this guidance document. Comments may not be acted upon by the Agency until the document is next revised or updated.

46. ASCO - Basic Search - Factor V Leiden (FVL) Mutations And Thromboembolic Events
The American Society of Clinical Oncology (ASCO) is the world s leading professional organization representing physicians who treat people with cancer.
http://www.asco.org/ac/1,1003,_12-002643-00_18-0034-00_19-0034276,00.asp?Abstrac

47. ASCO - Browse By Meeting - Factor V Leiden Mutation In Patients With Breast Canc
The American Society of Clinical Oncology (ASCO) is the world s leading professional organization representing physicians who treat people with cancer.
http://www.asco.org/ac/1,1003,_12-002636-00_18-0026-00_19-001011,00.asp
HOME ABOUT ASCO PRESS CENTER STATE AFFILIATES ... Career Resources Pay Membership Dues, Membership Directory, Drug Database, Update Your Profile username
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Forgot your password? Create a guest account BECOME A MEMBER Journal of Clinical Oncology Journal of Oncology Practice The ASCO Foundation People Living With Cancer BECOME A SPONSOR The remember me feature is an automatic login process which creates a cookie on the hard drive of your computer containing your username and password, thereby avoiding the need to enter them upon subsequent visits to asco.org. DO NOT select this option if you share this computer with others since personal or member only information will be accessible by other users. For addition information please review our . Click OK to keep the Remember Me option, or click Cancel to remove it. When you are done, click the LOGIN button to continue with the login Process . Home Abstracts Browse by Meeting Meeting: 2004 ASCO Annual Meeting Printer Friendly Bookmark Category: Patient Care SubCategory: Cancer-Related Complications Factor V Leiden mutation in patients with breast cancer and a central venous catheter: Relationship with deep vein thrombosis.

48. Inherited Hypercoagulation Disorders: The Factor V Leiden Mutation: Patient Info
factor v leiden produces an inherited disorder that is present in 4 to 6 percent of the population. Patients with the mutation have a three to six-fold
http://www.telemedicine.arizona.edu/patient_info/benign_disorders/disorders/inhe
Patient Information Resource:
Benign Hematologic (Blood) Disorders A collaborative project of the Arizona Telemedicine Program , the Arizona Health Sciences Library and the Arizona Cancer Center See: Inherited Hypercoagulation Disorders: The Factor V Leiden Mutation When a wound occurs, several changes take place to minimize blood loss. First, the blood vessel slows the flow of blood past the wound site. Next, platelets collect at the wound site to form a plug. Finally, fibrin clots form scabs to replace these temporary platelet plugs. heparin or warfarin (Coumadin) or fibrinolytic therapy may be effective. : This web site and its contents are designed for educational purposes only. This web site does not render medical advice or professional services. The information provided should not be used for diagnosing or treating a health problem or disease. It is not a substitute for professional care. If you have or suspect you may have a health problem, you should consult your health care provider. Arizona Cancer Center
1515 N. Campbell Ave.

49. Factor V Leiden Polymorphism (FV:R506Q)
This polymorphism, known as factor v leiden (Factor VR506Q), The increased risk of venous thrombosis in heterzygous factor v leiden carriers is
http://pathology.mc.duke.edu/coag/fvlflyer2.html
Factor V Leiden Polymorphism (FV Test Overview Resistance to activated protein C (APC) is a frequently identified abnormality in patients with venous thrombosis. In patients presenting with an initial venous thromboembolic event, as many as 21% have APC resistance. Furthermore, in patients with recurrent venous thrombosis, as many as 60% have APC resistance. APC resistance has also been associated with atypical thromboembolic complications, including portal vein thrombosis and cerebral sinus thrombosis. Exposure to certain environmental risk factors, such as surgery, pregnancy, or oral contraceptives, can further increase the risk for a venous thrombotic event. Although APC resistance is a common finding in patients with venous thrombosis, it is seldom identified as a risk factor for arterial thrombosis. Laboratory screening for APC resistance consists of clotting assays that measure the degree of prolongation of the plasma clotting time upon the addition of APC. In more than 90% of cases, APC resistance is linked to a single polymorphism in the factor V gene. This polymorphism, known as Factor V Leiden (Factor V ), involves a single base pair substitution at position 1691 in the factor V gene, resulting in substitution of the arginine (R) at position 506 by glutamine (Q). This substitution blocks an important APC-cleavage site in factor Va after position 506, thereby resulting in a decreased ability of APC to inactivate the procoagulant factor Va. This single polymorphism results in the observed hypercoagulable state that leads to an increased risk for venous thromboembolism.

50. SRS In A Patient Homozygous For Factor V Leiden
I have an inherited condition called factor v leiden that makes me unusually susceptible to developing blood clots. I am homozygous for this condition,
http://www.annelawrence.com/factorvleiden.html
SRS in a Patient Homozygous for Factor V Leiden
By Teri; edited by Anne Lawrence, M.D., Ph.D.
I have an inherited condition called "Factor V Leiden" that makes me unusually susceptible to developing blood clots. I am homozygous for this condition, meaning I have two copies of the gene that produces the abnormality. This makes my risk of developing blood clots especially severe, and greatly increases the chance that I might have a deep vein thrombosis or pulmonary embolus during or after surgery. I also have Crohn’s disease, for which I take prednisone. After much discussion and consultation, Dr. Toby Meltzer agreed to perform vaginoplasty for me. My SRS occurred in November, 2002, after I had had a Gunther Tulip vena cava filter inserted two days earlier. I received Lovenox (low molecular weight heparin) for three days following surgery. There was quite a bit of postoperative bleeding due to the Lovenox, and some of the external graft failed, probably from blood running under the graft. Dr. Meltzer said the end result would probably be fine. Stitches also failed near the anus before the area was completely healed, but I understand that this happens frequently. I needed to be recatheterized three times during the recovery period because of major swelling around the urethra, and I stayed at the postoperative recovery facility for 14 days. So the surgery was no cakewalk for me, to say the least. I’m now two months post-op, and doing better. I must be an extrememly slow healer due to the blood thinners and the prednisone for the Crohn's disease. I've recovered fairly well, and am moving up in stent size. The area of the perineum where the stitches fell out has healed now, and I can actually sit on a chair without shifting and having pain. I am very glad I was able to have the surgery, and I feel very lucky that Dr. Meltzer agreed to do it. Most surgeons would not have taken the time to deal with the added aggravations of my case. I am eternally grateful to him.

51. Factor V Leiden (R506Q) - DNA Analysis
factor v leiden, R506Q Mutation, venous thrombosis, factor V gene, factor V mutation. Genetic risk factors are involved in the predisposition of individuals
http://www.bcmgeneticlabs.org/tests/dna/factorvleiden.html
FACTOR V LEIDEN
R506Q mutation Factor V mutation
DNA ANALYSIS
See also: Thrombophilia Panel - DNA Analysis Open Page in New Window Print This Page Return to Search Genetic risk factors are involved in the predisposition of individuals to venous thrombosis. These factors include inherited resistance to activated protein C (APC) as well as deficiencies in antithrombin III, protein C and protein S. APC resistance is a major basis for familial thrombosis and is common in the general population (2-5%). APC resistance is frequently associated with factor V Leiden, a point mutation in the factor V gene. Individuals heterozygous for this mutation have an increased risk for venous thrombosis (approximately 5- to 10-fold). Individuals homozygous for this mutation have an even higher risk for venous thrombosis (approximately 50- to 100-fold). Prophylactic anticoagulation therapy should be considered for carrier individuals at risk in situations where venous stasis is likely (i.e. prolonged bed rest after surgery). Analysis for the Factor V Leiden R506Q mutation is offered as a specific DNA test, or as part of a

52. Factor V Leiden - OhioHealth
factor v leiden is an inherited blood clotting disorder that increases the risk of blood clots.
http://www.ohiohealth.com/healthreference/reference/ACB951B7-B755-41E2-A299AF822

53. Log In Problems
factor v leiden is a fairly new phenomenon. Learn the basics of historytaking, screening, risk reduction, and education when a woman asks for
http://www.medscape.com/viewarticle/467129
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54. Log In Problems
A new prothrombinbased activated protein C resistance (APC-R) assay provides improved distinction of FV wild-type and FVL carriers compared with the
http://www.medscape.com/viewarticle/495043
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55. Kimball Genetics - Factor V Leiden DNA Test
A laboratory specializing in genetic testing and counseling for hemochromatosis, venous thrombosis, fragile X and other common disorders.
http://www.kimballgenetics.com/tests-factor_v.html
Factor V Leiden DNA Test
The factor V Leiden mutation is the most common genetic risk factor for venous thrombosis, a serious health problem affecting approximately 1 in 1000 people and leading to 50,000 deaths annually in this country. This mutation is involved in 20-40% of venous thrombosis cases and is present in 5% of the general population. The Factor V Leiden DNA Test should be included in the evaluation of all patients with thrombosis or a family history of this condition. Venous thrombosis is multigenic, and up to a third of individuals affected with inherited thrombosis have two or more genetic defects. The Factor V Leiden mutation is also associated with multiple pregnancy loss and intrauterine fetal demise. Kimball Genetics provides the Factor V Leiden DNA Test separately, in combination with the Prothrombin (Factor II) DNA Test, or as part of panels including coagulation tests for other inherited hypercoagulability disorders.
Indications for Factor V Leiden DNA Testing:
Venous thrombosis Pulmonary embolism Transient ischemic attack or premature stroke Peripheral vascular disease, particularly lower extremity occlusive disease

56. Journal Of Pediatric Oncology Nursing -- Sign In Page
factor v leiden thrombophilia, formed by a genetic mutation, slows the body’s First described in 1994, factor v leiden mutation has been identified as a
http://jpo.sagepub.com/cgi/content/refs/22/3/176

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Factor V Leiden and Its Effect on Children With Cardiac Pathology
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57. Roche Diagnostics - Roche Molecular Diagnostics - Products
factor v leiden KIT. For in vitro diagnostic use INTENDED USE The factor v leiden Kit allows the detection and genotyping of a single point mutation (G to A
http://www.roche-diagnostics.com/ba_rmd/rmd_products_genomics_01.html

Virology

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Health

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(In the EU: serial number 2021 to 5602) FACTOR V LEIDEN KIT For in vitro diagnostic use
INTENDED USE
EXPLANATION OF THE TEST

Inherited thrombophilia predispose an individual to thrombotic events such as venous thrombosis, the third most common cardiovascular disease. Activated protein C (APC) resistance is regarded as the most prevalent coagulation abnormality associated with venous thrombosis. A point mutation at position 1691 of the Factor V gene, referred to as Factor V Leiden mutation, causes an arginine to glutamine substitution at position 506 in the Factor V protein and renders it partially resistant to inactivation by APC. Genetic analysis has demonstrated that this mutation, which has a relatively high prevalence in the general population (e.g., about 5% in Caucasians), accounts for 85% to 95% of APC resistance cases.
TEST PRINCIPLE / SUMMARY Detection
  • A 222 bp fragment of the Factor V gene is amplified from human genomic DNA using specific primers.
  • Genotyping The Hybridization Probes are also used to determine the genotype by performing a melting curve analysis after the amplification cycles are completed and the amplicon is present at increased concentration.

    58. Resistance To Activated Protein C
    Resistance to activated protein C due to Factor V R506Q (factor v leiden) THE PREVALENCE OF factor v leiden IN THE GENERAL POPULATION.
    http://www.jr2.ox.ac.uk/bandolier/bandopubs/keeling.html
    @import "../styles/advanced.css";
    Resistance to activated protein C due to Factor V R506Q (Factor V Leiden)
    David Keeling BSc MD MRCP MRCPath Consultant Haematologist Oxford Haemophilia Centre, Churchill Hospital, Oxford.
    The Discovery of Resistance to Activated Protein C and Identification of the Mechanism.
    The phenomenon of resistance to activated protein C (APC) was discovered only three years ago. Dahlback and colleagues identified a middle aged man with a personal and a family history of thrombosis whose APTT did not show the expected prolongation when exogenous APC was added to his plasma [1]. The same phenomenon was found in several of the patient's relatives. The mechanism was unknown but inheritance of a deficiency of a cofactor for APC was hypothesised. This proved not to be the case and one year later the molecular defect was identified as a point mutation in factor V (FV) [2]. The mutation was a G to A substitution at nucleotide position 1,691. This results in the arginine at position 506 (coding triplet CGA) being replaced by a glutamine (coding triplet CAA). Using the single letter amino-acid code the mutant FV can therefore be written as FV R506Q but is more often referred to as FV Leiden (Figure 1).
    Figure 1. The G to A point mutation results in the arginine at the protein C cleavage site being replaced by glutamine.

    59. Factor V Leiden Mutation Analysis
    Detection of Leiden (R506Q) mutation in factor V gene, causing increased risk of All offspring of a factor v leiden homozygote will inherit at least a
    http://www.labcorp.com/datasets/labcorp/html/chapter/mono/mg001200.htm
    Factor V Leiden Mutation Analysis Number CPT Related Information
  • Activated Protein C Resistance (APCR) Factor II (Prothrombin), DNA Analysis Methylenetetrahydrofolate Reductase (MTHFR) Thermolabile Variant, DNA Analysis Thrombotic Risk Profile, DNA
  • Synonyms Factor V Leiden DNA Test Specimen Whole blood, buccal swab (The buccal swab collection kit contains instructions for the use of a buccal swab) Volume 7 mL whole blood or buccal swab kit Minimum Volume 3 mL whole blood or two buccal swabs Container Lavender-stopper (EDTA) tube, yellow-stopper (ACD) tube Storage Instructions Maintain specimen at room temperature. Causes for Rejection Frozen or hemolyzed specimen; quantity not sufficient for analysis; one buccal swab; improper container Use Detection of Leiden (R506Q) mutation in factor V gene, causing increased risk of thrombosis. Limitations This test detects the factor V R506Q (Leiden) mutation and will help identify those individuals who are at increased risk of thrombosis; however, increased risk of thrombosis can be caused by a variety of genetic and non-genetic factors not screened for by this assay. Methodology Allele-specific polymerase chain reaction (PCR) and gel electrophoresis Additional Information The mutation is characterized by a guanine to adenine substitution at nucleotide 1691 in exon 10 of the Factor V gene that replaces an arginine at codon 506 with a glutamine. It is designated as FV R506Q (Leiden), and confers resistance to inactivation by activated protein C. As a result, Factor V persists in the circulation, leading to a mild hypercoagulable state. The Leiden mutation accounts for 90% - 95% of APC resistance. Heterozygous carriers of this mutation have a 4 to 8-fold increased risk of thrombosis. Individuals homozygous for the mutation (i.e., they have a copy of the mutation on each chromosome) carry an 80 to 100-fold risk of thrombosis. All offspring of a Factor V Leiden homozygote will inherit at least a single copy of the mutation. Genetic counseling is recommended for these patients.

    60. Factor V Leiden / Thrombophilia
    Online. Mailing list that offers support and information for persons affected by factor v leiden (thrombophilia),
    http://webcenter.health.webmd.netscape.com/hw/blood_disorders/shc29fac.asp
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    ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... Factor V Leiden Mailing List and Digest Factor V Leiden / Thrombophilia Factor V Leiden Mailing List and Digest Online. Mailing list that offers support and information for persons affected by Factor V Leiden (thrombophilia), a hereditary blood coagulation disorder. Daily digest (condensed version of the mailing list) also available. WEBSITE: http://www.fvleiden.org VERIFIED: 4/17/2005 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

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