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Part Description

LP33227-7   CMT axonal gene
Includes sequence analysis of MPZ, Connexin32, NFL, GDAP1 and MFN2 Source: Regenstrief Institute

LOINC Names Get Info

Fully-Specified Name
CMT axonal gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
CMT axonal gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
CMT2 gene Mut Bld/T Mut Anl
Display Name
CMT axonal gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CMT axonal gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    CMT axonal gene mutations
    LP452065-8
    • Analyte
      CMT axonal gene mutations
      LP452065-8
      • Component Numerator
        CMT axonal gene mutations
        LP452065-8
        • Component Numerator Core
          CMT axonal gene
          LP33227-7
        • Component Numerator Core Suffix
          mutations
          LP452208-4
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.83 (NAM)
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen pro axonální CMT cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Αξονικό γονίδιο CMT στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Αξονικό γονίδιο CMT Γονίδιο Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen axonal CTM Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen axonal CMT:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)CMT2 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)CMT, gene assonale analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene assonale CMT Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)CMT 축삭 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)CMT axonaal gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
pl-PLPolish (Poland)CMT aksonalny gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu związanego z aksonalną postacią CMT diagnostyka molekularna Gen aksonalnej postaci choroby Charcota-Mariego-Tootha (CMT) wynik kategorialny
pt-BRPortuguese (Brazil)CMT axonal análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; CMT2 gene; GJB, MPZ and NEFL gene mutations; Axonal HMSN; Charcot-Marie Tooth disease, type 2; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)CMT аксональный ген исследование на мутацию:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)CMT akzonal geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)CMT 轴突基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: Charcot-Marie Tooth 病, 2 型;Charcot-Marie Tooth 病, I 型;Charcot-Marie-Tooth 病, 2 型;Charcot-Marie-Tooth 病, II 型;CMT;CMT2;GJB、MPZ 及 NEFL 基因突变;腓骨肌萎缩症, 2 型;轴突 HMSN;轴突 HMSN (遗传性运动和感觉神经病) 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=41112-4