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Term Description

Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.

LOINC Names Get Info

Fully-Specified Name
Genetic disease sequence variation interpretation:Imp:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
Genetic variation clinical significance [Imp]
Short Name
Gene dis seq var interp-Imp
Display Name
Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Genetic disease sequence variation interpretation, Blood or tissue specimen

Part Model Get Info

  • Component
    Genetic disease sequence variation interpretation
    LP69972-5
    • Analyte
      Genetic disease sequence variation interpretation
      LP69972-5
      • Component Numerator
        Genetic disease sequence variation interpretation
        LP69972-5
        • Component Numerator Core
          Genetic disease sequence variation interpretation
          LP69972-5
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Imp
    LP6819-9
  • Time
    Pt
    LP6960-1
  • 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: LL4034-6

Source: American College of Medical Genetics
AnswerCodeScoreAnswer ID
PathogenicLA6668-3
Likely pathogenicLA26332-9
Uncertain significanceLA26333-7
Likely benignLA26334-5
BenignLA6675-8

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73 (MIN)
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
11949

Member of these Panels

LOINCLong Common Name
51960-3DNA marker results panel
55233-1Genetic analysis master panel
51975-1Individual allele results panel
81247-9Master HL7 genetic variant reporting panel

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Genetické onemocnění sekvenční varianta identifikátor:Interpretace:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Ερμηνεία παραλλαγών αλληλουχίας γενετικών ασθενειών:Imp:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: HL7.GENETICS Imp Nom Pt Αίμα Αίμα/Ιστός Ερμηνεία Ερμηνεία παραλλαγών αλληλουχίας γενετικών ασθενειών Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Interpretación de la variante de secuencia de la enfermedad genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Interpretación de la variación de la secuencia de la enfermedad genética:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Maladie génétique interprétation globale de la variation de séquence:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)Malattia genetica, interpretazione variazione di sequenza:Imp:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione della variazione di sequenza di ma Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)genetische ziekte sequentievariatie interpretatie:interpretatie:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Interpretacja wariantów sekwencyjnych chorób genetycznych:ocena:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Interpretacja wariantów sekwencyjnych w chorobach genetycznych wynik kategorialny
pt-BRPortuguese (Brazil)Doença genética interpretação variação da seqüência:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Gene dis seq var interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RURussian (Russian Federation)Генетическое заболевание последовательность вариация интерпретация:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)Genetik hastalık sekans varyasyon yorumu:İzlnm:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)遗传性疾病序列变异解释:印象: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 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 疾 病 症 血;血液 遗传性疾病（遗传疾病、遗传病、基因疾病）序列变异解释

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=53037-8