methylenetetrahydrofolate reductase (MTHFR) genotyping
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Contraindications
- MTHFR genotyping to assess risk for hereditary thrombophilia[3]
- recurrent pregnancy loss[3] (NGC)
Clinical significance
- C677T, C677E, A1298C mutations
- determines plasma homocysteine-lowering effect of folate supplementation
Specimen
More general terms
More specific terms
Additional terms
References
- ↑ Fohr IP et al 5,10-Methylenetetrahydrofolate reductase genotype determines the plasma homocysteine-lowering effect of supplementation with 5-methyltetrahydrofolate or folic acid in healthy young women American Journal of Clinical Nutrition, 2002 75:275-282 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/11815318 <Internet> http://www.ajcn.org/content/75/2/275.abstract
- ↑ Panel of 3 tests Laboratory Test Directory ARUP: http://www.aruplab.com/guides/ug/tests/0055655.jsp
- ↑ 3.0 3.1 3.2 ACGM News. July 10, 2015 ACMG Provides Recommendations on Genetic Testing Through the Choosing Wisely<TM>Campaign. https://www.acmg.net/docs/ACMG_ChoosingWisely_Final.pdf