Version 2.78

Part Descriptions

LP228747-4   JAK2 gene exon 12 targeted mutation analysis
Mutations in the Janus kinase 2 (JAK2) gene exon 12 are present in significant numbers of patients with myeloproliferative neoplasias (MPNs). MPNs are distinguished by having clones of malignant cells that are derived from an unrestricted proliferation of hematopoietic progenitors. In patients with MPN, excessive numbers of mature and functional blood cells are produced. Mutations that interfere with the signaling of protein tyrosine kinase are also thought to play a role in MPNs. PMID: 19074595 Source: Regenstrief LOINC

LP94512-8   JAK2 gene exon 12
The JAK2 gene is located on chromosome 9p24. Mutations in exon 12 of the JAK2 gene are present in patients with a distinctive myeloproliferative syndrome. These patients display a clinical phenotype and bone marrow histologic findings which differ from those observed in V617F-positive patients. In most cases they have marked erythrocytosis, absence of leukocytosis or thrombocytosis, low serum erythropoietin levels and isolated erythroid hyperplasia in the bone marrow. PMID: 7267906 Source: Regenstrief LOINC

Fully-Specified Name

Component
JAK2 gene exon 12 targeted mutation analysis
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
JAK2 gene exon 12 targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
JAK2 exon 12 Mut Anl Bld/T
Display Name
JAK2 gene exon 12 targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
JAK2 gene Exon 12 targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.27
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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both
Common Test Rank Get Info
6947

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: JAK2 Exon 12 Mut.
es-ES Spanish (Spain) Gen JAK2 exon 12 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutación dirigida al exón 12 del gen JAK2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-CA French (Canada) Gène JAK2 exon 12 ciblé, analyse de la mutation:Observation:Temps ponctuel:Sang/Tissu:Document:Molgen
fr-FR French (France) JAK2 gène exon 12 mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) JAK2, esone 12 del gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Esone 12 del gene JAK2 Gene JAK2 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) JAK2-gen exon 12 doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: JAK2 gen JAK2 gen exon 12 molgen targeted
pt-BR Portuguese (Brazil) JAK2 gene exon 12 análise da mutação:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: ; JAK2 exon 12; PV; Janus kinase 2 gene; Erythrocytosis; Polycythemia vera; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) JAK2 ген экзон 12 исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) JAK2 geni ekzon 12 Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) JAK2 基因外显子 12 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: Janus 激酶 2 基因;PV;两面神激酶 2 基因;坚纽斯激酶 2 基因;奥斯勒氏病;杰纳斯激酶 2 基因;真性多血症;真性红细胞增多症;真性红血球增多症;红细胞增多;红细胞增多症;红血球增多症;脾大性红细胞增多;脾大性红细胞增多（Polycythemia vera，PV，奥斯勒氏病）;脾大性红细胞增多症 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 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 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

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=55300-8