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Part Description

LP19654-0   ATM gene
The ATM gene (ATM serine/threonine kinase) [HGNC Gene ID:795] is located on chromosome 11q22-q23. The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010] [NCBI Gene ID:472] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
ATM gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
ATM gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name
ATM gene Mut Tested Bld/T
Display Name
ATM gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
ATM gene variants tested for, Blood or tissue specimen

Part Model Get Info

  • Component
    ATM gene mutations tested for
    LP227714-5
    • Analyte
      ATM gene mutations tested for
      LP227714-5
      • Component Numerator
        ATM gene mutations tested for
        LP227714-5
        • Component Numerator Core
          ATM gene
          LP19654-0
        • 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

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.73 (MIN)
Order vs. Observation
Observation
Common Test Rank Get Info
17965

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen ATM testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο ATM εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο ATM εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ARSpanish (Argentina)determinación de las mutaciones del gen ATM:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ESSpanish (Spain)Gen ATM Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Mutaciones del gen ATM analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)ATM gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)ATM, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene ATM Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KRKorean (Korea, Republic Of)ATM 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)ATM-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: ATM gen molgen
pl-PLPolish (Poland)ATM gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen ATM wynik kategorialny
pt-BRPortuguese (Brazil)ATM teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)ATM ген 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)ATM geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)ATM 基因 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: ataxia telangiectasia mutated;ATM;AT1;ATA;ATC;ATD;ATDC;ATE;TEL1;TELO1;A-T mutated;AT mutated;TEL1, telomere maintenance 1, homolog;serine-protein kinase ATM;运动失调性毛细血管扩张症突变型;路-巴二氏综合征突变型;共济失调性毛细血管扩张症突变型;共济失调毛细血管扩张症突变型;A-T 突变型;AT 突变型;TEL1, 端粒维持 1, 同源物;TEL1, 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=21625-9