50995-0

BRCA1+BRCA2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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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

Fully-Specified Name

Component: BRCA1+BRCA2 gene targeted mutation analysis
Property: Find
Time: Pt
System: Bld/Tiss
Scale: Doc
Method: Molgen

Additional Names

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

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.22
Last Updated: Version 2.73
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

Tag	Language	Translation
es-ES	Spanish (Spain)	Genes BRCA1+BRCA2 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen BRCA1 + BRCA2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-CA	French (Canada)	Gène BRCA1+BRCA2 ciblé, analyse de la mutation:Observation:Temps ponctuel:Sang/Tissu:Document:Molgen
fr-FR	French (France)	BRCA1+BRCA2 gènes mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (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-NL	Dutch (Netherlands)	BRCA1 + BRCA2-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: BRCA1+BRCA2 gen BRCA2 gen molgen targeted
pt-BR	Portuguese (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-RU	Russian (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-TR	Turkish (Turkey)	BRCA1+BRCA2 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN	Chinese (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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