Version 2.77

Part Description

LP281415-2   F8 gene intron 22 inversion
Inversions in either intron 1 or intron 22 in the F8 gene together account for 45-50% of mutations associated with severe hemophilia A (HA) in males. PMID: 18284600 These inversions are typically not identified in patients with mild or moderate HA. When an inversion mutation is identified in a family, males affected with severe hemophilia A in the same family may be tested for the mutation. At-risk females also may be tested to determine their hemophilia A carrier status. Source: Regenstrief LOINC

Fully-Specified Name

Component
F8 gene intron 22 inversion targeted mutation analysis
Property
Find
Time
Pt
System
Amnio fld/CVS
Scale
Doc
Method
Molgen

Additional Names

Short Name
F8 intron 22 Inv Mut Anl Amn/CVS
Display Name
F8 gene intron 22 inversion targeted mutation analysis Molgen Doc (Amnio fld/CVS)
Consumer Name Alpha Get Info
F8 gene intron 22 inversion targeted mutation analysis, Amnio Fld/CVS

Basic Attributes

Class
MOLPATH.INV
Type
Laboratory
First Released
Version 2.66
Last Updated
Version 2.66
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Inversión del intrón 22 del gen F8 Analisis de mutaciones:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación dirigida por inversión del intrón 22 del gen F8:Hallazgo:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Documento:Genética molecular
fr-FR French (France) F8 gène intron 22 inversion mutation cible trouvée:Recherche:Ponctuel:Liquide amniotique/Villosités choriales:Document:Biologie moléculaire
it-IT Italian (Italy) F8 introne 22 inversione, gene analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:Molgen
Synonyms: Campione di villi coriali Gene F8 Gene F8 introne 22 inversione Genetica molecolare Inversione genetica Liquido amniotico Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio)
zh-CN Chinese (China) F8 基因内含子 22 倒位 突变分析:发现:时间点:羊水/绒毛膜绒毛样本:文档型: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 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 凝血因子 VIII;Coagulation Factor VIII;F8 分子病理学.基因倒位;分子病理学试验.基因倒位;分子病理学试验类.倒位 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 时刻;随机;随意;瞬间 绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本 羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS） 羊膜水;胎水 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=91680-9