ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

MTHFR polymorphism testing is frequently ordered by physicians as part of the clinical evaluation for thrombophilia. It was previously hypothesized that reduced enzyme activity of MTHFR led to mild hyperhomocysteinemia which led to an increased risk for venous thromboembolism, coronary heart disease...

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Veröffentlicht in:	Genetics in medicine 2013-02, Vol.15 (2), p.153-156
Hauptverfasser:	Hickey, Scott E., Curry, Cynthia J., Toriello, Helga V.
Format:	Artikel
Sprache:	eng
Schlagworte:	692/699/1541 692/700/139/1512 Abortion acmg-practice-guidelines Biomedical and Life Sciences Biomedicine Coronary Disease - diagnosis Coronary Disease - genetics Genetic Predisposition to Disease - genetics Genetic Testing - standards Genetics, Medical - methods Genetics, Medical - organization & administration Genetics, Medical - standards Genomics - methods Genomics - organization & administration Genomics - standards Human Genetics Humans Hyperhomocysteinemia - diagnosis Hyperhomocysteinemia - genetics Laboratory Medicine Methylenetetrahydrofolate Reductase (NADPH2) - genetics Polymorphism, Genetic Practice Guidelines as Topic Risk Factors Thrombophilia - diagnosis Thrombophilia - genetics United States Venous Thromboembolism - diagnosis Venous Thromboembolism - genetics
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