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Part Description

LP32678-2   PTPN11 gene
The PTPN11 gene (protein tyrosine phosphatase, non-receptor type 11) [HGNC Gene ID:9644] is located on chromosome 12q24. The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] [NCBI Gene ID:5781] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
PTPN11 gene targeted mutation analysis.tier 1:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
PTPN11 gene mutations tier 1 found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
PTPN11 gene Mut Anl tier1 Bld/T
Display Name
PTPN11 gene mutations tier 1 Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
PTPN11 gene tier 1 variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    PTPN11 gene targeted mutation analysis.tier 1
    LP229443-9
    • Analyte
      PTPN11 gene targeted mutation analysis.tier 1
      LP229443-9
      • Component Numerator
        PTPN11 gene targeted mutation analysis.tier 1
        LP229443-9
        • Component Numerator Core
          PTPN11 gene
          LP32678-2
        • Component Numerator Core Suffix
          targeted mutation analysis.tier 1
          LP71359-1
      • 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

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.63 (MIN)
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.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen PTPN11 cílená mutační analýza.skupina 1:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο PTPN11 στοχευμένη ανάλυση μεταλλάξεων.επίπεδο 1:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο PTPN11 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων στοχευμένη ανάλυση μεταλλάξεων.επίπεδο 1
es-ESSpanish (Spain)Gen PTPN11 Análisis de mutación. Nivel 1:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutación dirigida al gen PTPN11, nivel 1:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)PTPN11 gène mutation cible trouvée tier 1:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)PTPN11, gene analisi di mutazione mirata.livello 1:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene PTPN11 Genetica molecolare Mutazione genica mutazioni livello 1 Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)PTPN11-gen doelgerichte mutatie-analyse.tier 1:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen PTPN11 gen targeted
pl-PLPolish (Poland)PTPN11 gen analiza mutacji ukierunkowanych.klasa 1:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu PTPN11 diagnostyka molekularna Gen PTPN11 wynik kategorialny
pt-BRPortuguese (Brazil)PTPN11 análise de mutação genética.fileira 1:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: BPTP3; CFC; HGNC:8012; NS1; PTP-1D; PTP2C; SH-PTP2; SH-PTP3; SHP-2; SHP2; SHPTP2; Noonan syndrome 1; protein tyrosine phosphatase, non-receptor type 11 gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal tier1; Mutations; I; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)PTPN11 ген исследование на мутацию.tier 1:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)PTPN11 geni mutasyon analizi.tier 1:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)PTPN11 基因 突变分析.层 1: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: Ⅰ BPTP3;CFC;HGNC:8012;Noonan 综合征 1;NS1;PTP-1D;PTP2C;SHP2;SHP-2;SHPTP2;SH-PTP2;SH-PTP3;假特纳综合征 1;努南综合征 1;努喃综合征 1;男性特纳综合征;蛋白酪氨酸磷酸酯酶, 非受体型 11 基因;蛋白酪氨酸磷酸酶, 非受体型 11 基因 I 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 基因突变分析 存在;存在与否;特征标识;身份;身份标识 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=53791-0