Version 2.78

Part Description

LP32674-1   KEL gene
The KEL gene (Kell blood group, metallo-endopeptidase) [HGNC Gene ID:6308] is located on chromosome 7q33. This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3792] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
KEL gene targeted mutation analysis
Property
Find
Time
Pt
System
Amnio fld/CVS
Scale
Doc
Method
Molgen

Additional Names

Long Common Name
KEL gene targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method
Short Name
KEL gene Mut Anl Amn/CVS
Display Name
KEL gene targeted mutation analysis Molgen Doc (Amnio fld/CVS)
Consumer Name Alpha Get Info
KEL gene targeted mutation analysis, Amnio Fld/CVS

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.11
Last Updated
Version 2.68
Change Reason
Release 2.68: SYSTEM: Both specimens can be tested.; Previous Releases: 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

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
es-AR Spanish (Argentina) gen KEL:presencia o identidad:punto en el tiempo:líquido amniótico:Narrativo:
es-ES Spanish (Spain) Gen KEL Analisis de mutaciones:Hallazgo:Punto temporal:Líquido amniótico o muestra de vellosidades coriónicas:Doc:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen KEL:Hallazgo:Punto temporal:Muestra de líquido amniótico o vellosidades coriónicas:Documento:Genética molecular
fr-FR French (France) KEL gène mutation cible trouvée:Recherche:Ponctuel:Liquide amniotique/Villosités choriales:Document:Biologie moléculaire
it-IT Italian (Italy) KEL, gene analisi di mutazione mirata:Osservazione:Pt:Liquido amniotico/Villi coriali, prelievo:Doc:Molgen
Synonyms: Campione di villi coriali Gene KEL Genetica molecolare Liquido amniotico Mutazione genica Osservazione Patologia molecolare Prelievo del liquido amniotico o dei villi coriali Punto nel tempo (episodio)
ko-KR Korean (Korea, Republic Of) KEL 유전자 돌연변이 분석:존재:검사시점:양수:설명적인:분자유전
pt-BR Portuguese (Brazil) KEL análise de mutação genética:NCnc:Pt:LiqAmni:Nar:Genética molecular
Synonyms: Kell blood group gene; Identity or presence; Point in time; Random; Amn; Amniotic fluid; Amn fl; Amniotic flu; AF; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
tr-TR Turkish (Turkey) KEL geni Mutasyon analizi:Bulgu:Zmlı:Amnio sv/CVS:Dokm:Molgen
Synonyms: Amniyon mayii
zh-CN Chinese (China) KEL 基因 突变分析:发现:时间点:羊水/绒毛膜绒毛样本:文档型:分子遗传学类实验室方法
Synonyms: Kell 血型基因 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 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 绒毛膜绒毛标本;绒膜绒毛标本;绒膜绒毛样本 羊水（羊膜水、胎水）或绒毛膜绒毛样本（绒毛膜绒毛标本、绒膜绒毛标本、绒膜绒毛样本、CVS） 羊膜水;胎水 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=34656-9