Version 2.78

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
Prid
Time
Pt
System
Amnio fld
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
CFTR gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method Nominal
Short Name
CFTR Mut Anl Amn
Display Name
CFTR gene targeted mutation analysis Molgen Nom (Amn fld)
Consumer Name Alpha Get Info
CFTR gene targeted mutation analysis, Amniotic fluid

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.11
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.
Order vs. Observation
Both
Common Test Rank Get Info
15251

Member of these Panels

LOINC Long Common Name
54037-7 HEDIS 2009 panel
57820-3 HEDIS 2010 panel
60442-1 HEDIS 2011 panel
67767-4 HEDIS 2012 panel
72199-3 HEDIS 2013 panel
74234-6 HEDIS 2014 Value Sets

Language Variants Get Info

Tag Language Translation
de-DE German (Germany) CFTR-Gen zielgerichtete Mutationsanalyse:Nachweis oder Identität:Zeitpunkt:Amnionflüssigkeit:Nominal:Molekulargenetisch
es-AR Spanish (Argentina) análisis de la mutación del gen CFTR:presencia o identidad:punto en el tiempo:líquido amniótico:Nominal:genética molecular
es-ES Spanish (Spain) Gen CFTR Analisis de mutaciones:Presencia o identidad:Punto temporal:Fluido Ammiótico:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen CFTR:Presencia o identidad:Punto temporal:Líquido amniótico:Nominal:Genética molecular
fr-FR French (France) CFTR gène mutation cible trouvée:Identification:Ponctuel:Liquide amniotique:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CFTR, gene analisi di mutazione mirata:Prid:Pt:Liquido amniotico:Nom:Molgen
Synonyms: Gene CFTR Genetica molecolare Liquido amniotico Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio)
ko-KR Korean (Korea, Republic Of) CFTR 유전자 돌연변이 분석:존재:검사시점:양수:명칭결과:분자유전
nl-NL Dutch (Netherlands) CFTR-gen doelgerichte mutatie-analyse:identificator:moment:vruchtwater:nominaal:moleculair genetisch onderzoek
Synonyms: CFTR gen molgen targeted
pt-BR Portuguese (Brazil) CFTR análise de mutação genética:Ident:Pt:LiqAmni:Nom:Genética molecular
Synonyms: Cystic fibrosis transmembrane conductance regulator; CFA; AcC35; AcCC7; CBAVD; MRP7; Identity or presence; Point in time; Random; Amn; Amniotic fluid; Amn fl; Amniotic flu; AF; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) CFTR ген исследование на мутацию:ПрИд:ТчкВрм:Амниотич ждк:Ном:МолГен
Synonyms: Амниотическая жидкость Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TR Turkish (Turkey) CFTR geni Mutasyon analizi:MevcKimlik:Zmlı:Amniyon sv:Snf:Molgen
Synonyms: Amniyon mayii
zh-CN Chinese (China) CFTR 基因 突变分析:存在与否或特征标识:时间点:羊水:名义型: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 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 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 羊膜水;胎水 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=34718-7