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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 targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
BRCA1+BRCA2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
BRCA1+BRCA2 Mut Anl Bld/T
Display Name
BRCA1+BRCA2 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
BRCA1+BRCA2 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    BRCA1+BRCA2 gene targeted mutation analysis
    LP227830-9
    • Analyte
      BRCA1+BRCA2 gene targeted mutation analysis
      LP227830-9
      • Component Numerator
        BRCA1+BRCA2 gene targeted mutation analysis
        LP227830-9
        • Component Numerator Core
          BRCA1+BRCA2 gene
          LP65897-8
        • Component Numerator Core Suffix
          targeted mutation analysis
          LP32419-1
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.22
Last Updated
Version 2.73 (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.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both
Common Test Rank Get Info
6185

Language Variants Get Info

TagLanguageTranslation
ar-JOArabic (Jordan)فحص جينات الـ BRCA1 و BRCA2 في الدم أو في الأنسجة
Synonyms: فحص جينات الـ BRCA1 و BRCA2 في الدم أو في الأنسجة
cs-CZCzech (Czechia)Gen BRCA1+BRCA2 cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο BRCA1+BRCA2 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: BRCA1 BRCA2 Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο BRCA1+BRCA2 Γονίδιο BRCA2 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Genes BRCA1+BRCA2 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen BRCA1 + BRCA2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-CAFrench (Canada)Gène BRCA1+BRCA2 ciblé, analyse de la mutation:Observation:Temps ponctuel:Sang/Tissu:Document:Molgen
fr-FRFrench (France)BRCA1+BRCA2 gènes mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)BRCA1+BRCA2, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene BRCA1+BRCA2 Gene BRCA2 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)BRCA1 + BRCA2-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: BRCA1+BRCA2 gen BRCA2 gen molgen targeted
pl-PLPolish (Poland)BRCA1+BRCA2 gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genów BRCA1 i BRCA2 Analiza mutacji genu BRCA2 diagnostyka molekularna Gen BRCA2 Geny BRCA1 i BRCA2
pt-BRPortuguese (Brazil)BRCA1+BRCA2 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: ; BCRA2 gene; Ashkenazi jewish workup; Breast cancer 2, early onset; FANCB; FANCD1; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)BRCA1+BRCA2 ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)BRCA1+BRCA2 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)BRCA1+BRCA2 基因 突变分析:发现:时间点:全血/组织:文档型: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 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 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=50995-0