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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

LOINC Names Get Info

Fully-Specified Name
CFTR gene mutations:Prid:Pt:Bld.dot:Nom:Targeted gene mutation analysis
Long Common Name
CFTR gene mutations found [Identifier] in DBS by Targeted gene mutation analysis Nominal
Short Name
CFTR Mut DBS Mut Anl
Display Name
CFTR gene mutations found Targeted gene mutation analysis Nom (DBS)
Consumer Name Alpha Get Info
CFTR gene mutations found, Dried blood spot

Part Model Get Info

  • Component
    CFTR gene mutations
    LP451908-0
    • Analyte
      CFTR gene mutations
      LP451908-0
      • Component Numerator
        CFTR gene mutations
        LP451908-0
      • 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.dot
    LP21304-8
    • System Core
      Bld.dot
      LP21304-8
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.83 (NAM)
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
17117

Member of these Panels

LOINCLong Common Name
54078-1Cystic fibrosis newborn screening panel
54089-8Newborn screening panel American Health Information Community (AHIC)

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CFTR cílená mutační analýza:Přítomnost nebo identita:Časový bod:Suchá krevní kapka (DBS):Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο CFTR στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Bld.dot:Nom:Μοριακή γενετική
Synonyms: Bld.dot MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Γονίδιο Γονίδιο CFTR Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen CFTR:Presencia o identidad:Punto temporal:DBS:Nominal:Genética molecular
es-ESSpanish (Spain)Gen CFTR Analisis de mutaciones:Presencia o identidad:Punto temporal:gota de sangre (papel de filtro):Nom:Genética molecular
fr-FRFrench (France)CFTR gène mutation cible trouvée:Identification:Ponctuel:Sang buvard:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)CFTR, gene analisi di mutazione mirata:Prid:Pt:Sangue.su carta da filtro:Nom:Molgen
Synonyms: Gene CFTR Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Spot sangue secco
nl-NLDutch (Netherlands)CFTR-gen doelgerichte mutatie-analyse:identificator:moment:gedroogde bloedspot:nominaal:moleculair genetisch onderzoek
Synonyms: CFTR gen molgen targeted
pl-PLPolish (Poland)CFTR gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:sucha kropla krwi:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu CFTR diagnostyka molekularna Gen CFTR;Gen kodujący błonowy regulator przewodnictwa związany z mukowiscydozą wynik kategorialny
pt-BRPortuguese (Brazil)CFTR análise de mutação do gene:Ident:Pt:SgPapel:Nom:
Synonyms: Cystic fibrosis transmembrane conductance regulator; CFA; AcC35; AcCC7; CBAVD; MRP7; Identity or presence; Point in time; Random; DBS; Filter paper; FP; Dried blood spot; Blood; WB; Whole blood; Nominal; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)CFTR ген исследование на мутацию:ПрИд:ТчкВрм:Кр.Сух.капл:Ном:МолГен
Synonyms: Кровь Кровь сухая капля Номинальный;Именной Присутствие или Идентификация Точка во времени;Момент
tr-TRTurkish (Turkey)CFTR geni Mutasyon analizi:MevcKimlik:Zmlı:Kan.nokta:Snf:Molgen
zh-CNChinese (China)CFTR 基因 突变分析:存在与否或特征标识:时间点:全血.斑点: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 全血斑点(滤纸);滤纸;血液.斑点;血液斑点(滤纸) 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 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=54083-1