Version 2.78

Part Description

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 mutations tested for
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
JAK2 gene exon 12 mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name
JAK2 exon 12 Mut Tested Bld/T
Display Name
JAK2 gene exon 12 mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
JAK2 gene Exon 12 variants tested for, Blood or tissue specimen

Example Answer List: LL1064-6

Source: LOINC partner 1
Answer Code Score Answer ID
F537-K539delinsL LA14141-8
H538QK539L LA14142-6
K539L LA14143-4
N542-E543del LA14144-2

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.73
Change Reason
Changed Order_Obs from 'Observation Only' to 'Both' to fit current order use cases.
Order vs. Observation
Both
Common Test Rank Get Info
5105

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen JAK2 exon 12 Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Mutaciones del exón 12 del gen JAK2 analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-CA French (Canada) Gène JAK2 exon 12, Mutations testées:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FR French (France) JAK2 gène exon 12 mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) JAK2, esone 12 del gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Esone 12 del gene JAK2 Gene JAK2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
nl-NL Dutch (Netherlands) JAK2-gen exon 12 geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: JAK2 gen JAK2 gen exon 12 molgen
ru-RU Russian (Russian Federation) JAK2 ген экзон 12 мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) JAK2 geni ekzon 12 mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) JAK2 基因外显子 12 已测试的突变: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: 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 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 存在;存在与否;特征标识;身份;身份标识 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 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=63421-2