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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

LOINC Names Get Info

Fully-Specified Name
JAK2 gene exon 12 mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
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

Part Model Get Info

  • Component
    JAK2 gene exon 12 mutations tested for
    LP228746-6
    • Analyte
      JAK2 gene exon 12 mutations tested for
      LP228746-6
      • Component Numerator
        JAK2 gene exon 12 mutations tested for
        LP228746-6
        • Component Numerator Core
          JAK2 gene exon 12
          LP94512-8
        • Component Numerator Core Suffix
          mutations tested for
          LP32421-7
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Example Answer List: LL1064-6

Source: LOINC partner 1
AnswerCodeScoreAnswer ID
F537-K539delinsLLA14141-8
H538QK539LLA14142-6
K539LLA14143-4
N542-E543delLA14144-2

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.73 (MIN)
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

TagLanguageTranslation
cs-CZCzech (Czechia)Gen JAK2 exon 12 testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο JAK2 εξώνιο 12 εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο JAK2 Γονίδιο JAK2 εξώνιο 12 εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ESSpanish (Spain)Gen JAK2 exon 12 Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Mutaciones del exón 12 del gen JAK2 analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-CAFrench (Canada)Gène JAK2 exon 12, Mutations testées:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FRFrench (France)JAK2 gène exon 12 mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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-NLDutch (Netherlands)JAK2-gen exon 12 geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: JAK2 gen JAK2 gen exon 12 molgen
pl-PLPolish (Poland)JAK2 gen ekson 12 badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Ekson 12 genu JAK2 Gen JAK2 wynik kategorialny
ru-RURussian (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-TRTurkish (Turkey)JAK2 geni ekzon 12 mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (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