Version 2.78

Term Description

Narrative information (unstructured) about a genetic variant. The results may state that a mutation was not identified or include the variant(s) found. The location of the variant may be described at various levels, such as genomic (g.), coding (c.), and protein (p.) levels. Details may also include alternate identifiers for the variant (e.g dbSNP ID, Transcript reference sequence ID), the clinical significance (e.g. pathogenic, variant of unknown significance) and the change type (e.g. homozygous, heterozygous, wild type).
Source: Regenstrief LOINC

Fully-Specified Name

Component
Genetic variant details
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
Molgen

Additional Names

Short Name
Genetic variant details Bld/T
Display Name
Genetic variant details Molgen Nar (Bld/Tiss)
Consumer Name Alpha Get Info
Genetic variant details, Blood or tissue specimen

Basic Attributes

Class
MOLPATH
Type
Laboratory
First Released
Version 2.58
Last Updated
Version 2.73
Order vs. Observation
Both
Common Test Rank Get Info
6121

Member of these Panels

LOINC Long Common Name
102116-1 ESR1 gene mutation panel - Tissue by Molecular genetics method
102117-9 Gastrointestinal stromal tumor multigene mutation panel - Tissue by Molecular genetics method
102118-7 Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method
102119-5 Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Detalles de variantes genéticas:Hallazgo:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
es-MX Spanish (Mexico) Detalles de la variante genética:Hallazgo:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
fr-FR French (France) Détails des variants génétiques:Recherche:Ponctuel:Sang/Tissu:Résultat textuel:Biologie moléculaire
it-IT Italian (Italy) Variante genetica, dettagli:Osservazione:Pt:Sangue/Tess:Nar:Molgen
Synonyms: Dettagli della variante genetica Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
zh-CN Chinese (China) 遗传变异详情:发现:时间点:全血/组织:叙述型: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;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 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 细节;细节信息;详细信息;详细情况;具体信息;具体情况;细节情况 血;血液 遗传变异（遗传性变异、基因变异、传性变型、遗传变异体、基因变异体）详情（细节、细节信息、详细信息、详细情况、具体信息、具体情况、细节情况）

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=82939-0