69548-6

Genetic variant assessment

Active

Term Description

Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective.

LOINC Names Get Info

Fully-Specified Name: Genetic variant assessment:Find:Pt:Bld/Tiss:Nom:Molgen
Long Common Name: Genetic variant assessment
Short Name: Genetic var assess
Display Name: Genetic variant assessment Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: Genetic variant assessment, Blood or tissue specimen

Part Model Get Info

Component
Genetic variant assessment
LP136540-4
- Analyte
  Genetic variant assessment
  LP136540-4
  - Component Numerator
    Genetic variant assessment
    LP136540-4
    - Component Numerator Core
      Genetic variant assessment
      LP136540-4
    - Component Numerator Core Suffix
      NULL
  - Component Denominator
    NULL
    - Component Denominator Core
      NULL
    - Component Denominator Core Suffix
      NULL
- Challenge
  NULL
- Adjustment
  NULL
- Count
  NULL
Property
Find
LP6813-2
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

Preferred Answer List: LL1971-2

Source: HL7

Answer	Code	Score	Answer ID
PresentCopyright http://snomed.info/sct ID:52101004 Present (qualifier value)			LA9633-4
AbsentCopyright http://snomed.info/sct ID:2667000 Absent (qualifier value)			LA9634-2
No call			LA18198-4
IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value)			LA11884-6

Basic Attributes

Class: HL7.GENETICS
Type: Laboratory
First Released: Version 2.38
Last Updated: Version 2.73 (MIN)
Order vs. Observation: Observation
Common Test Rank Get Info: 13238

Member of these Panels

LOINC	Long Common Name
55233-1	Genetic analysis master panel
81247-9	Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag	Language	Translation
cs-CZ	Czech (Czechia)	Genetická varianta posouzení:Nález:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GR	Greek (Greece)	Αξιολόγηση γενετικών παραλλαγών:Εύρεση:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική Synonyms: HL7.GENETICS Nom Pt Αίμα Αίμα/Ιστός Αξιολόγηση Αξιολόγηση γενετικών παραλλαγών Εύρεση Ιστός Μοριακή γενετική
es-ES	Spanish (Spain)	Valoración de la variabilidad genética:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Evaluación de variantes genéticas:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	Variant génétique étudié:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	Variante genetica, valutazione:Osservazione:Pt:Sangue/Tess:Nom:Molgen Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Valutazione di variante genetica
nl-NL	Dutch (Netherlands)	genetische variant evaluatie:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: molgen
pl-PL	Polish (Poland)	Ocena wariantu genetycznego:stwierdzenie:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna Synonyms: diagnostyka molekularna wynik kategorialny
pt-BR	Portuguese (Brazil)	Variante genética avaliação:Achado:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU	Russian (Russian Federation)	Генетического варианта исследование:Находка:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Генетического варианта определение Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	Genetik varyant değerlendirme:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	遗传变异评估:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法 Synonyms: HL7 遗传学全血或组织;血液/组织;血液或组织分子遗传学;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;结论时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片血;血液评价;估计;估价;评论;估定;估算遗传变异（遗传性变异、基因变异、传性变型、遗传变异体、基因变异体）评估（评价、估计、估价、评论、估定、估算）;遗传变异体评估

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

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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.