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Part Description

LP65897-8   BRCA1+BRCA2 gene
The BRCA1 gene (breast cancer 1, early onset) [HGNC Gene ID:1100] is located on chromosome 17 at position q21, and the BRCA2 gene (breast cancer 2, early onset) [HGNC Gene ID:1101] is located on chromosome 13 at position q12.3. Inherited mutations in BRCA1 and BRCA2 confer increased lifetime risk of developing breast or ovarian cancer. Mutations in the BRCA1 gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair.[NCBI Gene ID:672][NCBI Gene ID:675] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
BRCA1+BRCA2 gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
BRCA1+BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name
BRCA1+BRCA2 Mut Tested Bld/T
Display Name
BRCA1+BRCA2 gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
BRCA1+BRCA2 gene variants tested for, Blood or tissue specimen

Part Model Get Info

  • Component
    BRCA1+BRCA2 gene mutations tested for
    LP227829-1
    • Analyte
      BRCA1+BRCA2 gene mutations tested for
      LP227829-1
      • Component Numerator
        BRCA1+BRCA2 gene mutations tested for
        LP227829-1
        • Component Numerator Core
          BRCA1+BRCA2 gene
          LP65897-8
        • 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

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.32
Last Updated
Version 2.73 (MIN)
Order vs. Observation
Observation
Common Test Rank Get Info
7200

Language Variants Get Info

TagLanguageTranslation
ar-JOArabic (Jordan)فحص طفرات الجينات BRCA1 و BRCA2 في الدم أو الأنسجة ( بتقنية علم الوراثة الجزيئية )
cs-CZCzech (Czechia)Gen BRCA1+BRCA2 testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο BRCA1+BRCA2 εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: BRCA1 BRCA2 MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο BRCA1+BRCA2 Γονίδιο BRCA2 εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ESSpanish (Spain)Genes BRCA1+BRCA2 Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Mutaciones del gen BRCA1 + BRCA2 analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-CAFrench (Canada)Gène BRCA1+BRCA2, Mutations testées:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FRFrench (France)BRCA1+BRCA2 gènes mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)BRCA1+BRCA2, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene BRCA1+BRCA2 Gene BRCA2 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
nl-NLDutch (Netherlands)BRCA1 + BRCA2-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: BRCA1+BRCA2 gen BRCA2 gen molgen
pl-PLPolish (Poland)BRCA1+BRCA2 gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen BRCA2 Geny BRCA1 i BRCA2 wynik kategorialny
pt-BRPortuguese (Brazil)BRCA1+BRCA2 gene teste para mutações:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RURussian (Russian Federation)BRCA1+BRCA2 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)BRCA1+BRCA2 geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
uk-UAUkrainian (Ukraine)BRCA1+BRCA2 мутації генів, протестованих на:Наявність або Ідентифікація:МоментЧасу:Кров/Тканини:Категорійно:Молекулярна генетика
Synonyms: Ashkenazi jewish workup; Blood; BRCA; BRCC2; Breast cancer 2, early onset; BROVCA2; FACD; FAD; FAD1; FANCB; FANCD; FANCD1; Gene mut tested; Genetics; GLM3; Heredity; Heritable; Identity or presence; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mut Tested; Mutation; Muts; Nominal; Oncology; PCR; PNCA2; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue; XRCC11
zh-CNChinese (China)BRCA1+BRCA2 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: Ashkenazi 犹太人群全面身体检查;Ashkenazi 犹太人群诊断检查;FANCB;FANCD1;乳腺癌 2, 早期发病;北欧犹太人群全面身体检查;北欧犹太人群诊断检查;阿肯纳西犹太人群全面身体检查;阿肯纳西犹太人群诊断检查 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

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=59041-4