Version 2.78

Part Description

LP309968-8   F5 gene.c.1691G>A
A guanine to adenine change at nucleotide 1691 in the Factor V gene (F5 c.1691G>A) is responsible for Factor V Leiden (FVL), a disorder associated with an increased risk of thrombosis. Normally, Factor V is a procoagulant and converts prothrombin to thrombin, and activated protein C (APC) regulates coagulation by inhibiting Factor V. The F5 c.1691G>A mutation eliminates the Factor V cleavage site where APC normally acts. Patients who are heterozygous for one copy of F5 c.1691G>A have a 7-fold increased lifetime risk of thrombosis, while those who have two copies of the mutation have 20- to 80- times the lifetime risk compared to those that have two normal copies. [NCBI Books: NBK534802] Source: Regenstrief LOINC

Fully-Specified Name

Component
F5 gene.c.1691G>A
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
F5 c.1691G>A Geno Bld/T
Display Name
F5 gene c.1691G>A genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
F5 gene c.1691G>A variant analysis genotype, Blood or tissue specimen

Example Answer List: LL4021-3

Source: Queensland Medical Laboratories
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 2.66
Last Updated
Version 2.68
Order vs. Observation
Both

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-DE German (Germany) F5-Gen.c.1691G>A:Genotyp:Zeitpunkt:Blut oder Gewebe:Nominal:Molekulargenetisch
es-ES Spanish (Spain) Gen F5 c.1691G> A:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Gen F5 c.1691G> A:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) F5 gène.c.1691G>A:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) F5, gene.c.1691G>A:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene F5 Gene F5 c.1691G>A Genetica molecolare Genotipo Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) F5-gen c.1691G>A:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: f5 gen molgen
zh-CN Chinese (China) F5 基因.c.1691G>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 APC;FVL;不稳定因素;促凝血球蛋白原基因;凝血因子 V - Leiden 基因;凝血因子Ⅴ - Leiden 基因;加速凝血球蛋白基因;易变因子;活化型蛋白C辅助因子;活化型蛋白C辅因子;活化蛋白C辅助因子;活化蛋白C辅因子;活性型蛋白C辅助因子;活性型蛋白C辅因子;活性蛋白C辅助因子;活性蛋白C辅因子;激活型蛋白C辅助因子;激活型蛋白C辅因子;激活蛋白C辅助因子;激活蛋白C辅因子;血栓形成倾向 C 型;丙;丙型 F5 基因 c.1691G>A 全血或组织;血液/组织;血液或组织 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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=91712-0