Version 2.77

Term Description

Factor II (Prothrombin) 20210G>A assays allow for the detection and genotyping of a single point mutation (G to A at position 20210) of the Factor II (F2) gene from DNA isolated typically from whole blood.
Source: Regenstrief LOINC

Part Description

LP14458-1   F2 gene.c.20210G>A
The factor II prothrombin 20210A mutation is a common genetic risk factor for thrombosis; it is associated with increased prothrombin levels. Increased prothrombin levels lead to increased thrombin generation and thus more fibrin clots. It is an autosomal dominant disorder, with heterozygotes having a 3-11 fold increased risk for thrombosis. Information from ARUP Laboratories 2007 01 08 Source: Regenstrief Institute

Fully-Specified Name

Component
F2 gene.c.20210G>A
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
F2 c.20210G>A Geno Bld/T
Display Name
F2 gene c.20210G>A genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
F2 gene c.20210G>A genotype, Blood or tissue specimen

Example Answer List: LL2478-7

Source: Regenstrief LOINC
Answer Code Score Answer ID
G/G (wild type) LA19932-5
G/A (heterozygous) LA19933-3
A/A (homozygous) LA19934-1

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0o
Last Updated
Version 2.73
Change Reason
Release 2.67: SCALE_TYP: Updated Scale from Ord to Nom based on the current LOINC naming model for concepts used to report the patient's genotype for a specific variant; PROPERTY: Updated Property from PrThr to Geno based on the current LOINC naming model for concepts used to report the patient's genotype for a specific variant; Previous Releases: Changed 'p' to 'c' in Component since this variant is described at the coding level (vs. protein level). Edited to term to harmonize with current recommended HGVS nomenclature.; Converted the answers in the description to an answer list.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016. Updated Answer list to reflect that this term should be used to report the presence or absence of a single point mutation. This change was approved by the Laboratory LOINC Committee in December 2018.
Order vs. Observation
Both
Common Test Rank Get Info
2177

Member of these Panels

LOINC Long Common Name
94469-4 F2 gene.c.20210G>A and c.1691G>A panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Prothr.-Mut.20210G>A
de-DE German (Germany) F2-Gen.c.20210G>A:Genotyp:Zeitpunkt:Blut oder Gewebe:Nominal:Molekulargenetisch
es-AR Spanish (Argentina) gen F2.P.G20210A:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Gen F2 polimorfismo G21210A:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) F2 gene.c.20210G> A:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) F2 gène mutation c.20210G>A:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) F2, gene.p.G20210A:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene F2 Gene F2 p.G20210A Genetica molecolare Genotipo Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) F2 유전자.p.G20210A:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) F2-gen.c.20210G>A:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: f2 gen f2 gen.c.20210G>A molgen
pt-BR Portuguese (Brazil) F2 gene.p.G20210A:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; F2 p.G20210A; Prothrombin precursor; Coagulation Factor 2 gene; Prothrombin gene; Coagulation Factor II gene; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
zh-CN Chinese (China) F2 基因.c.20210G>A: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: A 型 C 型;丙;丙型 F2 p.G20210A;F2 基因.p.G20210A 全血或组织;血液/组织;血液或组织 凝血因子 2 基因;凝血因子 II 基因;凝血因子Ⅱ基因;凝血酶原前体;凝血酶原基因 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=24475-6