Version 2.78

Term Description

Example answer: 1^Heteroplasmic ^LA
Definition: When information about the state of each of the paired genes is important (e.g. because it may only have an effect if homozygous) - report that information here
Source: Regenstrief LOINC

Fully-Specified Name

Component
Genetic variant allelic state
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

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

Normative Answer List: LL381-5

Source: Regenstrief LOINC
Answer Code Score Answer ID
Heteroplasmic LA6703-8
Homoplasmic LA6704-6
Homozygous LA6705-3
Heterozygous LA6706-1
Hemizygous LA6707-9

Basic Attributes

Class
MOLPATH.MISC
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.26
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Variante genético estado alélico:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Estado alélico de variante genética:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Variant génétique état allélique:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Variante genetica, stato allelico:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Stato allelico di variante genetica Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische variant allelische status:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Estado da variação genética alélica:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Molecular pathology
ru-RU Russian (Russian Federation) Генетический вариант аллельное состояние:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik varyant allelik durum:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CN Chinese (China) 遗传变异等位基因状态:类型: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.杂项;分子病理学试验.杂项;分子病理学试验类.其他 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 型 州;邦;政府;国家;状况;情况 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 杂项;杂项类;杂项试验 等位基因状态 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）等位基因状态;遗传变异等位基因状态;遗传变异体等位基因状态

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=48007-9