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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 mutations:Prid:Pt:Colorectal cancer specimen:Nom:Targeted gene mutation analysis
Long Common Name
PTEN gene mutations found [Identifier] in Colorectal cancer specimen by Targeted gene mutation analysis Nominal
Short Name
PTEN gene Mut CRC spec Mut Anl
Display Name
PTEN gene mutations found Targeted gene mutation analysis Nom (Colorectal cancer specimen)
Consumer Name Alpha Get Info
PTEN gene mutations found, Colorectal cancer specimen

Part Model Get Info

  • Component
    PTEN gene mutations
    LP452194-6
    • Analyte
      PTEN gene mutations
      LP452194-6
      • Component Numerator
        PTEN gene mutations
        LP452194-6
      • 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
    Colorectal cancer specimen
    LP222067-3
    • System Core
      Colorectal cancer specimen
      LP222067-3
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.61
Last Updated
Version 2.83 (NAM)
Order vs. Observation
Observation

Member of these Panels

LOINCLong Common Name
85905-8Cancer pathology panel - Colorectal cancer specimen by CAP cancer protocols

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen PTEN cílená mutační analýza:Přítomnost nebo identita:Časový bod:Vzorek kolorektálního karcinomu:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο PTEN στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Δείγμα καρκίνου του παχέος εντέρου:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Γονίδιο Γονίδιο PTEN Δείγμα Δείγμα καρκίνου Δείγμα καρκίνου του παχέος εντέρου Καρκίνος Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen PTEN:Presencia o identidad:Punto temporal:Muestra de cáncer colorrectal:Nominal:Genética molecular
es-ESSpanish (Spain)Gen PTEN Analisis de mutaciones:Presencia o identidad:Punto temporal:Cáncer colorectal:Nom:Genética molecular
fr-FRFrench (France)PTEN gène mutation cible trouvée:Identification:Ponctuel:Tissu cancer colorectal:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)PTEN, gene analisi di mutazione mirata:Prid:Pt:Campione di carcinoma del colon-retto:Nom:Molgen
Synonyms: Campione di tumore Gene PTEN Genetica molecolare Mutazione genica Neoplasia maligna Patologia molecolare Presenza o Identità Punto nel tempo (episodio)
pl-PLPolish (Poland)PTEN gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:materiał z raka jelita grubego:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu PTEN diagnostyka molekularna Gen PTEN nowotwór wynik kategorialny
zh-CNChinese (China)PTEN 基因 突变分析:存在与否或特征标识:时间点:结直肠癌标本: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) 供检查用的材料;待检物;待试验物;样品;样本;试料;试样 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 受检物 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 样品 样本 癌 癌（癌症、癌变）标本（样本、样品、试样） 结直肠癌（结肠直肠癌、大肠癌、大肠直肠癌）标本（样本、样品、试样）;结肠直肠癌标本;大肠癌标本;大肠直肠癌标本 试样 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=85506-4