Version 2.78

Term Description

For targeted mutation analysis, report the discrete mutations the study is designed to detect. In HL7 V2 they can be reported in one observation as a list separated by repeat delimiters OR as a series of separate OBX segments, one per mutation tested for. In FHIR, multiple coded entries can not be reported as a list in one observation value field. They must be reported as the values of separate observations.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Gene mutations tested for
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene Mut Tested Bld/T
Display Name
Gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Gene variants tested for, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.73
Change Reason
Changed Component from "Gene XXX mutations tested for" to "Gene mutations tested for" to make it more clear that the mutations tested for are the subject of this concept rather than the gene, and removing "XXX" does not change the meaning of this term.
Order vs. Observation
Observation
Common Test Rank Get Info
7918

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen XXX:presencia o identidad:punto en el tiempo:tejido, no especificado:Nominal:genética molecular
es-ES Spanish (Spain) Gen Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Mutaciones genéticas probadas:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
fr-CA French (Canada) Gène, Mutations testées:Présence ou identité:Temps ponctuel:Sang/Tissu:Nominal:Molgen
it-IT Italian (Italy) Gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KR Korean (Korea, Republic Of) 유전자 XXX 돌연변이 검사용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Gene XXX teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
tr-TR Turkish (Turkey) Gen mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 基因 已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 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 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 存在;存在与否;特征标识;身份;身份标识 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=36908-2