48007-9

Genetic variant allelic state [Type] in Blood or Tissue by Molecular genetics method

Active

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

LOINC Names Get Info

Fully-Specified Name: Genetic variant allelic state:Type:Pt:Bld/Tiss:Nom:Molgen
Long Common Name: Genetic variant allelic state [Type] in Blood or Tissue by Molecular genetics method
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

Part Model Get Info

Component
Genetic variant allelic state
LP62064-8
- Analyte
  Genetic variant allelic state
  LP62064-8
  - Component Numerator
    Genetic variant allelic state
    LP62064-8
    - Component Numerator Core
      Genetic variant allelic state
      LP62064-8
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Type
LP6886-8
Time
Pt
LP6960-1
- Time Core
  Pt
  LP6960-1
- Time Modifier
  NULL
System
Bld/Tiss
LP7061-7
- System Core
  Bld/Tiss
  LP7061-7
- Super System
  NULL
Scale
Nom
LP7750-5
Method
Molgen
LP6404-0

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 (MIN)
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
cs-CZ	Czech (Czechia)	Genetická varianta stav alel:Typ:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Κατάσταση αλληλόμορφων γενετικών παραλλαγών:Type:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: MISC MOLPATH MOLPATH.MISC Nom Pt Type Αίμα Αίμα/Ιστός Ιστός Κατάσταση Κατάσταση αλληλομόρφων Κατάσταση αλληλόμορφων γενετικών παραλλαγών Μοριακή γενετική
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
pl-PL	Polish (Poland)	Status alleliczny wariantu genetycznego:typ:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna Synonyms: diagnostyka molekularna wynik kategorialny
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

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LOINC Copyright

Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.