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methylenetetrahydrofolate reductase (MTHFR) genotyping
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:
- whole blood
Related
5,10-methylenetetrahydrofolate reductase (MTHFR)
Specific
MTHFR gene p.A1298C
MTHFR gene p.C677T
General
genotyping (allele testing)
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
PMID: 11815318
http://www.ajcn.org/content/75/2/275.abstract
- Panel of 3 tests
Laboratory Test Directory ARUP: 55655
- ACGM News. July 10, 2015
ACMG Provides Recommendations on Genetic Testing Through the
Choosing WiselyCampaign.
https://www.acmg.net/docs/ACMG_ChoosingWisely_Final.pdf