Version 2.80

Term Description

Factor V HR2 Allele, DNA Mutation Analysis is useful in patients who are carriers of Factor V Mutation (Leiden)as coinheritance of Factor V Mutation (Leiden) is associated with a 3-4-fold increased risk of venous thrombosis compared to inheritance of Factor V Mutation (Leiden) alone. As a result the result of the HR2 haplotype analysis is interpreted in the context of knowledge of the Leiden mutation.

Part Description

LP411710-9   F5 gene HR2 haplotype
The HR2 allele is a complex haplotype in exon 13 of the Factor V (F5) gene that consists of multiple polymorphisms throughout the gene, at least 4 of which result in amino acid changes. The HR2 allele may result in lower FV levels, and patients who are compound heterozygous carriers of both HR2 and FV Leiden have increased resistance to activated protein C (APC) and a pro-thrombotic phenotype. In fact, coinheritance of HR2 with the FV Leiden mutation is associated with a 3-4-fold increased risk of venous thrombosis compared to inheritance of FV Leiden alone. The defining amino acid change of HR2 was originally thought to be His1299Arg, but after realizing that multiple missense variations are co-inherited with the His1299Arg change and by expressing each variant in isolation using recombinant DNA techniques, it was subsequently found that the Asp2194Gly change is the most important PMID: 16246256. Source: Regenstrief LOINC

Fully-Specified Name

Component
F5 gene HR2 haplotype
Property
Geno
Time
Pt
System
Bld
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
F5 gene HR2 haplotype [Genotype] in Blood by Molecular genetics method Nominal
Short Name
F5 HR2 Geno Bld
Display Name
F5 gene HR2 haplotype genotype Molgen (Bld)
Consumer Name Alpha Get Info
F5 gene HR2 haplotype genotype, Blood

Example Answer List: LL5465-1

Source: Quest Diagnostics Inc.
Answer Code Score Answer ID
POSITIVE FOR ONE COPY OF THE FACTOR V LEIDEN (R506Q) MUTATION LA30466-9
POSITIVE FOR TWO COPIES OF THE FACTOR V LEIDEN (R506Q) MUTATION LA30467-7
POSITIVE FOR TWO COPIES OF THE FACTOR V LEIDEN (R506Q) VARIANT LA30468-5
POSITIVE FOR THE HETEROZYGOUS PRESENCE OF THE FACTOR V LEIDEN (R506Q) MUTATION; HETEROZYGOUS FOR THE HR2 POLYMORPHISM. LA30469-3
POSITIVE FOR THE HOMOZYGOUS PRESENCE OF THE FACTOR V LEIDEN (R506Q) MUTATION. NEGATIVE FOR THE HR2 POLYMORPHISM. LA30470-1
POSITIVE FOR ONE COPY OF THE FACTOR V HR2 VARIANT LA30471-9

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.68 (MIN)
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
de-DE German (Germany) F5-Gen HR2 Haplotyp:Genotyp:Zeitpunkt:Blut:Nominal:Molekulargenetisch
el-GR Greek (Greece) Γονίδιο F5 Απλότυπος HR2:Geno:Pt:Αίμα:Nom:Μοριακή γενετική
Synonyms: Geno Γονίδιο Γονίδιο F5 Γονίδιο F5 Απλότυπος HR2
es-ES Spanish (Spain) Haplotipo HR2 del gen 5:Genotipo:Punto temporal:Sangre:Nom:Genética molecular
es-MX Spanish (Mexico) Haplotipo del gen F5 HR2:Genotipo:Punto temporal:Sangre:Nominal:Genética molecular
fr-FR French (France) F5 gène haplotype HR2:Génotype:Ponctuel:Sang:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) F5, gene, aplotipo HR2:Geno:Pt:Sangue:Nom:Molgen
Synonyms: Aplotipo HR2 gene F5 Gene F5 Genetica molecolare Genotipo Patologia molecolare Punto nel tempo (episodio) Sangue
nl-NL Dutch (Netherlands) F5-gen HR2-haplotype:genotype:moment:bloed:nominaal:moleculair genetisch onderzoek
Synonyms: f5 gen molgen
zh-CN Chinese (China) F5 基因 HR2 单体型:基因型:时间点:全血:名义型:分子遗传学类实验室方法
Synonyms: 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 F5 基因 HR2 单体型（单倍型、单倍体型、单元型、单倍体） 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 血;血液 遗传基因;遗传因子;吉恩;生物基因

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