Version 2.78

Term Description

The patient's genotype for c.665C>T (rs1801133) and c.1298A>C (rs1801131) variants in the MTHFR gene.
Source: Regenstrief LOINC

Part Description

LP417572-7   MTHFR gene.c.677C>T & c.1298A>C
The MTHFR gene (methylenetetrahydrofolate reductase (NAD(P)H)) [HGNC Gene ID:7436] is located on chromosome 1p36.3. The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009] [NCBI Gene ID:4524] Two common variants in the MTHFR gene are c.665C>T (also known as c.677C>T, and p.Ala222Val) and c.1298A>C. The 665C>T variant is heat labile, and patients who are homozygous for this variant have higher serum levels of homocysteine and lower levels of folate. Individuals who have one copy of each of the two variants have similar clinical manifestations, while those who are homozygous for 1298A>C do not have elevated homocysteine levels. [NCBI Books: NBK66131] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
MTHFR gene.c.677C>T & c.1298A>C
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
MTHFR c.677C>T + 1298A>C Geno Bld/T
Display Name
MTHFR gene c.677C>T and c.1298A>C genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
MTHFR gene c.677C>T and c.1298A>C genotype, Blood or tissue specimen

Example Answer List: LL951-5

Source: Laboratory Corporation of America
Answer Code Score Answer ID
C/C (wild type) LA13521-2
C/T (heterozygous) LA13522-0
T/T (homozygous) LA13523-8

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen MTHFR c.677C> T y c.1298A> C:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Gen MTHFR c.677C> T y c.1298A> C:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) MTHFR gène mutation c.677C>T et mutation c.1298A>C:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) MTHFR, gene.c.677C>T & c.1298A>C:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Gene MTHFR Gene MTHFR c.677C>T Gene MTHFR c.677C>T and c.1298A>C Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) MTHFR-gen c.677C>T & c.1298A>C:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen MTHFR gen MTHFR gen.c.677C>T
zh-CN Chinese (China) MTHFR 基因.c.677C>T & c.1298A>C:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 5,10-亚甲基四氢叶酸还原酶基因;NADPH;血管危险(Vascular risk);血管风险(Vascular risk);还原型烟酰胺腺嘌呤二核苷酸磷酸;还原型辅酶 II C 型;丙;丙型 MTHFR c.C677T 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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