38404-0

CFTR gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP19684-7 CFTR gene
The CFTR gene (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)) [HGNC Gene ID:1884] is located on chromosome 7q31.2. This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1080] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

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

Additional Names

Short Name: CFTR Mut Anl Bld/T
Display Name: CFTR gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info: CFTR gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 2.14
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: 2861

Language Variants Get Info

Tag	Language	Translation
de-AT	German (Austria)	Synonyms: Cyst.Fibrose Mut.
de-DE	German (Germany)	CFTR-Gen zielgerichtete Mutationsanalyse:Befund:Zeitpunkt:Blut oder Gewebe:Dokument:Molekulargenetisch
es-AR	Spanish (Argentina)	análisis de la mutación del gen CFTR:presencia o identidad:punto en el tiempo:tejido, no especificado:Narrativo:genética molecular
es-ES	Spanish (Spain)	Gen CFTR Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutaciones dirigidas al gen CFTR:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FR	French (France)	CFTR gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT	Italian (Italy)	CFTR, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen Synonyms: Gene CFTR Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	CFTR 유전자 돌연변이 분석:존재:검사시점:전혈/조직:설명적인:분자유전
nl-NL	Dutch (Netherlands)	CFTR-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek Synonyms: CFTR gen molgen targeted
pt-BR	Portuguese (Brazil)	CFTR análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular Synonyms: Cystic fibrosis transmembrane conductance regulator; CFA; AcC35; AcCC7; CBAVD; MRP7; 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)	CFTR 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)	CFTR geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
uk-UA	Ukrainian (Ukraine)	CFTR ген аналіз цільових мутацій:Знахідка:МоментЧасу:Кров/Тканини:Документ:Молекулярна генетика Synonyms: ABC35; ABCC7; Blood; CBAVD; CF; CFA; CFTR/MRP; Cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); dJ760C5.1; Document; Finding; Findings; Genetics; Heredity; Heritable; Inherited; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; MRP7; Mut; Mut Anl; Mutations; PCR; Point in time; Random; Tissue; Tissue, unspecified; TNR-CFTR; UniversalLabOrders; WB; Whole blood; Whole blood or Tissue
zh-CN	Chinese (China)	CFTR 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: ABC35;ABCC7;CBAVD;CFA;MRP7;囊性纤维化跨膜转运调节物;囊性纤维化转膜传导调节因子;囊性纤维变性跨膜传导调节因子;囊性纤维变性跨膜传导调节蛋白;囊肿性纤维化跨膜传导调节因子;囊肿性纤维化跨膜传导调节蛋白临床文档型;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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