Version 2.78

Part Description

LP145976-9   CFTR gene.c.394delTT
The cystic fibrosis transmembrane regulator (CFTR) mutation in exon 3 (394delTT, rs121908769) is commonly referred to as the 'Nordic CF mutation.' It is found at high frequencies in Denmark and other countries, including Sweden, Norway, Estonia, Finland, Russia, etc., that border the Baltic Sea and associated waterways. PMID: 7509310 Source: Regenstrief LOINC, PMID: 7509310

Fully-Specified Name

Component
CFTR gene.c.394delTT
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
CFTR c.394delTT Bld/T Ql
Display Name
CFTR gene c.394delTT Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
CFTR gene c.394delTT, Blood or tissue specimen

Example Answer List: LL2014-0

Source: Estonian Society of Laboratory Medicine
Answer Code Score Answer ID
Wild type LA9658-1
Heterozygous LA6706-1
Homozygous LA6705-3

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.40
Last Updated
Version 2.73
Change Reason
Property has been changed from Arb (arbitrary) to Pr (presence) to reflect our current model for Ordinal terms where the results are based on the presence or absence of a mutation or variant. Scale has been changed from Nom to Ord since results (e.g. present/absent or wildtype, heterozgous, homozygous) are ordinal.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both
Common Test Rank Get Info
18762

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen CFTR.c.394delTT:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen CFTR c.394delTT:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) CFTR gène mutation c.394delTT:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) CFTR, gene.c.394delTT:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene CFTR Gene CFTR c.394 delezione TT Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CFTR-gen.c.394delTT:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CFTR gen CFTR gen.c.394delTT molgen
pt-BR Portuguese (Brazil) CFTR gene.c.394delTT::Pt:Sg/Tecido:Ord:Genética molecular
ru-RU Russian (Russian Federation) CFTR ген.c.394delTT:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) CFTR geni.c.394delTT:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) CFTR 基因.c.394delTT:存在情况或阈值:时间点:全血/组织:序数型: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 C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=70244-9