21672-1

F8 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

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Part Description

LP19702-7 F8 gene
The F8 gene (coagulation factor VIII, procoagulant component) [HGNC Gene ID:3546] is located on chromosome Xq28. This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008] [NCBI Gene ID:2157] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: F8 gene targeted mutation analysis
Property: Prid
Time: Pt
System: Bld/Tiss
Scale: Nom
Method: Molgen

Additional Names

Long Common Name: F8 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name: F8 gene Mut Anl Bld/T
Display Name: F8 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: F8 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 1.0m
Last Updated: Version 2.73
Change Reason: Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation: Both
Common Test Rank Get Info: 17377

Language Variants Get Info

Tag	Language	Translation
es-AR	Spanish (Argentina)	análisis de mutación genética F8:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES	Spanish (Spain)	Gen F8 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen F8:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	F8 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	F8, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene F8 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	F8 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	F8-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: f8 gen molgen targeted
pt-BR	Portuguese (Brazil)	F8 análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Hemophilia A; Classic hemophilia; Haemophilia; Procoagulant component; Factor 8; F8C; Coagulation Factor VIII gene; DXS1253E; F8B; HEMA; FVIII gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	F8 ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	F8 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	F8 基因突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法 Synonyms: DXS1253E;F8B;F8C;FVIII 基因;HEMA;促凝成分;促凝血成分;典型性血友病;凝血因子 8 基因;凝血因子 VIII;凝血因子 VIII 基因;凝血因子8;凝血因子Ⅷ;凝血因子Ⅷ基因;因子 8 基因;因子 VIII;因子 VIII 基因;因子8;因子Ⅷ;因子Ⅷ基因;经典型血友病;经典血友病;血友病;血友病 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基因突变分析存在;存在与否;特征标识;身份;身份标识时刻;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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Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.