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Part Description

LP61787-5   PTEN gene
Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, also known as phosphate and tensin homolog or PTEN protein, is encoded by the PTEN gene on chromosome10q23.31. PTEN protein has multiple functions, including protein phosphatase and lipid phosphatase activity. The lipid phosphatase function is critical for its role as a tumor suppressor and modulating cell cycle progression and cell survival. It also plays a role in correct neuron positioning, dendritic development and synapse formation, and may be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. Mutations in the PTEN gene are associated with multiple disorders, including PTEN hamartoma tumor syndromes, which include Cowden syndrome and Lhermitte-Duclos disease, squamous cell carcinoma of the head and neck, endometrial carcinoma, prostate cancer, and VACTERL with hydrocephalus. [UniProt: P60484] Loss of the PTEN gene can be determined by various techniques, including FISH, and loss of the PTEN protein can be detected by immunohistochemistry techniques. Source: Regenstrief LOINC, UniProt: P60484

LOINC Names Get Info

Fully-Specified Name
PTEN gene deletion+duplication:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
PTEN gene deletion and duplication mutation analysis [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
PTEN gene Del+Dup Bld/T
Display Name
PTEN gene del and dup mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
PTEN gene deletion/duplication analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    PTEN gene deletion+duplication
    LP427336-5
    • Analyte
      PTEN gene deletion+duplication
      LP427336-5
      • Component Numerator
        PTEN gene deletion+duplication
        LP427336-5
        • Component Numerator Core
          PTEN gene
          LP61787-5
        • Component Numerator Core Suffix
          deletion+duplication
          LP136317-7
      • 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

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.70 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen PTEN delece+duplikace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο PTEN διαγραφή+διπλασιασμός:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.DELDUP Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο PTEN διαγραφή διαγραφή+διπλασιασμός διπλασιασμός Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen PTEN Delección+duplicación:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Deleción + duplicación del gen PTEN:Orgullo:Punto temporal:Bld / Tiss:Nominal:Molgen
fr-FRFrench (France)PTEN gène délétion+duplication:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)PTEN, gene Delezione+duplicazione:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: delezione e duplicazione Delezione o duplicazione genica Gene PTEN Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)PTEN-gen deletie + duplicatie:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen PTEN gen
pl-PLPolish (Poland)PTEN gen delecja+duplikacja:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen PTEN wynik kategorialny
ru-RURussian (Russian Federation)PTEN ген делеция+дупликация: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)PTEN geni delesyon+duplikasyon:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: çiftleme
zh-CNChinese (China)PTEN 基因 缺失+重复: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: Bannayan-Zonana 综合征（Bannayan-Zonana syndrome，BZS）;BZS;Human mutated in multiple advanced cancers protein (MMAC1) mRNA, complete cds;MGC11227;MHAM;MMAC1;Mutated in multiple advanced cancers 1;Phosphatase and tensin homolog;PTEN1;TEP1;人类突变于多种进行性癌蛋白 (MMAC1) 全血或组织;血液/组织;血液或组织 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 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 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 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 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=96972-5