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
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
F8 intron 22 Inv Mut Anl Bld/T
Display Name
F8 gene intron 22 inversion targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
F8 gene intron 22 inversion targeted mutation analysis, Blood or tissue specimen

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:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación dirigida por inversión del intrón 22 del gen F8:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR French (France) F8 gène intron 22 inversion mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) F8 introne 22 inversione, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene F8 Gene F8 introne 22 inversione Genetica molecolare Inversione genetica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) F8 基因内含子 22 倒位 突变分析:发现:时间点:全血/组织: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 全血或组织;血液/组织;血液或组织 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 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=91679-1