Log In

Term Description

Number of mutations analyzed in Cystic Fibrosis genetic testing.

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 tested for:Num:Pt:Bld/Tiss:Qn:Molgen
Long Common Name
CFTR gene mutations tested for [#] in Blood or Tissue by Molecular genetics method
Short Name
Num CFTR Mut Tested Bld/T
Display Name
CFTR gene mutations tested for Molgen (Bld/Tiss) [#]
Consumer Name Alpha Get Info
CFTR gene variants tested for, Blood or tissue specimen

Part Model Get Info

  • Component
    CFTR gene mutations tested for
    LP227958-8
    • Analyte
      CFTR gene mutations tested for
      LP227958-8
      • Component Numerator
        CFTR gene mutations tested for
        LP227958-8
        • Component Numerator Core
          CFTR gene
          LP19684-7
        • Component Numerator Core Suffix
          mutations tested for
          LP32421-7
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Num
    LP6841-3
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Qn
    LP7753-9
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.22
Last Updated
Version 2.73 (MIN)
Order vs. Observation
Observation
Common Test Rank Get Info
11180

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CFTR testované mutace:Počet:Časový bod:Krev/tkáň:Kvantitativní:Molekulární genetika
el-GRGreek (Greece)Γονίδιο CFTR εξετασθείσες μεταλλάξεις:Αρ.:Pt:Αίμα/Ιστός:Qn:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Pt Qn Αίμα Αίμα/Ιστός Αρ. Γονίδιο Γονίδιο CFTR εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ESSpanish (Spain)Gen CFTR Análisis de mutaciones para...:Número (recuento):Punto temporal:Sangre o tejido:Qn:Genética molecular
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Mutaciones del gen CFTR analizadas para:Número (recuento):Punto temporal:Sangre o tejido:Cuantitativo:Genética molecular
fr-FRFrench (France)CFTR gène mutations recherchées:Nombre:Ponctuel:Sang/Tissu:Numérique:Biologie moléculaire
it-ITItalian (Italy)CFTR, gene, mutazioni testate per:Num:Pt:Sangue/Tess:Qn:Molgen
Synonyms: Gene CFTR Genetica molecolare Mutazione genica Numero (conta) Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
nl-NLDutch (Netherlands)CFTR-gen geteste mutaties:aantal:moment:bloed of weefsel:kwantitatief:moleculair genetisch onderzoek
Synonyms: CFTR gen molgen
pl-PLPolish (Poland)CFTR gen badanie w kierunku mutacji:liczba:punkt w czasie:krew lub tkanka:ilościowy:genetyka molekularna
Synonyms: diagnostyka molekularna Gen CFTR;Gen kodujący błonowy regulator przewodnictwa związany z mukowiscydozą
pt-BRPortuguese (Brazil)CFTR teste para mutação do gene:Num:Pt:Sg/Tecido:Qn:Genética molecular
Synonyms: Cystic fibrosis transmembrane conductance regulator; CFA; AcC35; AcCC7; CBAVD; MRP7; Number; Count; Cnt; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Quantitative; QNT; Quant; Quan; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)CFTR ген мутации тестирован на:Кол:ТчкВрм:Кр/Тк:Колич:МолГен
Synonyms: Количественный Количество Кровь Кровь или Ткань тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)CFTR geni mutasyonlar, test edilen:Say:Zmlı:Kan/Dk:Kant:Molgen
zh-CNChinese (China)CFTR 基因 已测试的突变:数量(计数):时间点:全血/组织:定量型: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 个数;数量;数量或计数（非负整数）;计数 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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 血;血液 遗传基因;遗传因子;吉恩;生物基因

Example Units

UnitSource
{#}Example UCUM Units

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=50998-4