Technical standards and guidelines: Venous thromboembolism (Factor V Leiden and prothrombin 20210G&gt;A testing): A disease-specific supplement to the standards and guidelines for clinical genetics laboratories

Spector, Elaine; Grody, Wayne W.; Matteson, Carla J; Palomaki, Glenn E.; Bellissimo, Daniel B.; Wolff, Daynna J.; Bradley, Linda; Prior, Thomas W.; Feldman, Gerald L.; Popovich, Bradley W.; Watson, Michael S.; Richards, C. Sue

doi:10.1097/01.gim.0000172641.57755.3a

Cited by 41 publications

(25 citation statements)

References 53 publications

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“…After PCR amplification, an endpoint plate reading is performed using real time PCR system. Allelic discrimination is achieved by measuring of the fluorescence values based on the signals from each well (Spector, 2005 (Schrijver, 2003). Custom designed oligonucleotide sequences complementary to the normal DNA sequence and known SNP are attached to a chip.…”

Section: Mutation Detection Using Hydrolysis Probesmentioning

confidence: 99%

Inherited Thrombophilia and the Risk of Vascular Events

Novaković¹,

Cvetković²,

Maksimović³

2011

Thrombophilia

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Section: Mutation Detection Using Hydrolysis Probesmentioning

confidence: 99%

Inherited Thrombophilia and the Risk of Vascular Events

Novaković¹,

Cvetković²,

Maksimović³

2011

Thrombophilia

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“…[9][10][11] Guidelines for investigation and management of patients with thrombophilia in the presence or absence of VTE have been developed. [12][13][14][15] These guidelines have been established despite limited knowledge on the clinical utility of APCR/FVL testing. [16][17][18] The different guidelines make recommendations, but there is no real consensus on the management and follow-up of asymptomatic and healthy FVL heterozygotes or of VTE patients found to be FVL heterozygotes.…”

Section: Introductionmentioning

confidence: 99%

Usefulness of factor V Leiden mutation testing in clinical practice

et al. 2010

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We have investigated the clinical usefulness of the activated protein C resistance (APCR)/factor V Leiden mutation (FVL) test by sending out questionnaires to all Norwegian physicians who ordered these tests from our publicly funded service laboratory during a 3-month period, and of whom 70% (267/383) responded. Indications for testing, patient follow-up, the use of APCR versus FVL tests and differences in practice between hospital doctors and GPs were examined. We found that 46% of the tests were predictive, ordered for risk assessment in healthy individuals with no previous history of venous thromboembolism (VTE). Among these, 42% of the tests were taken on the initiative of the patient and 24% were screening tests before prescription of oral contraceptives. In total, 54% of the tests were classified as diagnostic, among which 42% were ordered owing to a previous history of VTE and 22% to a history of brain stroke or myocardial infarction. The prevalence of FVL heterozygotes was not significantly different between the predictive and diagnostic test groups, that is, 26 and 20%, respectively. Only the predictive tests influenced patient follow-up. Here, the physician's advice to patients depended on the test result. In general, the clinical usefulness of APCR/FVL testing was low. Many tests were performed on unsubstantiated or vague indications. Furthermore, normal test results led to unwarranted refrain from giving advice about antithrombotic measures, leading to potential harm to the patient. INTRODUCTIONThe clinical utility of tests for common genetic variants associated with slightly increased risk for multi-factorial disorders such as type II diabetes 1 and atherosclerosis 2 has been questioned. 3 Among such tests, the currently most commonly used test is the activated protein C resistance (APCR) test or factor V Leiden mutation DNA (FVL) test. Clinical utility refers to the likelihood that a test will lead to improved outcome for the patient tested. 3 As the presence of APCR (measured by the second generation APCR assay) is almost always because of the FVL, these tests are equivalent in a population with high FVL mutation prevalence, regardless of the test being performed on the biochemical or DNA level. 4 Both tests identify heterozygotes and homozygotes for the FVL mutation. About 3-8% of subjects in Caucasian populations are heterozygous for the FVL mutation and B0.2% are FVL homozygous. 4 In our laboratory, FVL heterozygosity was found in 8.5% of anonymous blood samples from 200 healthy blood donors (unpublished data). The heterozygotes have a fivefold and the homozygotes an 18-fold increased relative risk for venous thromboembolism (VTE). 5,6 The risk for VTE is determined by several known genetic factors (for example, the FVL and factor II prothrombin 20210G4A mutations, protein C, protein S and antithrombin deficiency), as well as by age, obesity, immobility, anti-phospholipid antibodies, infections, malignancies and smoking.The annual incidence of VTE is about 1 per 1000 individuals, 7,8 which cor...

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“…Note 4: VIM has an analogous definition (ISO/IEC Guide 99:2007, 5.14)." [31] Main steps in the production of CRM include the design of a RM depending on its intended use, the selection of an appropriate starting material, a feasibility study for processing and characterising the material, the preparation of the candidate RM, a homogeneity study, short-and long-term stability studies, the characterisation of the candidate RM with respect to the target properties and evaluation of performance by the intended users (e.g. clinical laboratories) in situations where most likely will be used, the assignment of the certified values and their uncertainties, and finally, the issuing of a certificate [29,31] that states the value of the specified property, its associated uncertainty and a statement of metrological traceability [30,32].…”

Section: Reference Materials Certified Reference Materialsmentioning

confidence: 99%

“…In 2005, a new definition [30] of the term 'reference material' has been accepted by the Committee on Reference Materials (REMCO), which was slightly revised in 2009 [31]. This definition states that an RM is a "Material, sufficiently homogeneous and stable with respect to one or more 7 specified properties, which has been established to be fit for its intended use in a measurement The first note emphasizes the fact that the term 'reference material' should be understood as a family name covering different types of RMs [32], such as Quality Control Materials (QCMs), Calibrators and CRMs (Figure 2.).…”

Section: Reference Materials Certified Reference Materialsmentioning

confidence: 99%

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Reference Measurement Systems in Genetic Testing: Development of DNA-based Reference

Márki-Zay

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Technical standards and guidelines: Venous thromboembolism (Factor V Leiden and prothrombin 20210G>A testing): A disease-specific supplement to the standards and guidelines for clinical genetics laboratories

Cited by 41 publications

References 53 publications

Inherited Thrombophilia and the Risk of Vascular Events

Inherited Thrombophilia and the Risk of Vascular Events

Usefulness of factor V Leiden mutation testing in clinical practice

Reference Measurement Systems in Genetic Testing: Development of DNA-based Reference

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