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Part Descriptions

LP150045-5   Sequencing
Sequencing is a method used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes or entire genomes. Historically, most sequencing has been performed using the chain termination method developed by Frederick Sanger in 1977. PMID: 271968 Sequencing technologies have improved dramatically, making them cheaper, faster, and more accurate. Next-generation sequencing (NGS), also known as high-throughput sequencing, deep sequencing, and second-generation sequencing, is a type of technology that uses parallel sequencing of multiple small fragments of DNA to determine sequence. This "high-throughput" technology has increased the speed and amount of DNA sequenced at a significantly reduced cost. PMID: 18576944 Several NGS platforms (ie, sequencing instruments and associated reagents) have been developed. Third-generation sequencing is another methodology currently under development that uses parallel sequencing similar to NGS. In contrast to NGS, third-generation sequencing uses single DNA molecules rather than amplified DNA as a template. PMID: 20858600 Source: Regenstrief LOINC

LP183582-8   MARS2 gene
The MARS2 gene (methionyl-tRNA synthetase 2, mitochondrial) [HGNC Gene ID:25133] is located on chromosome 2q33.1. This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014] [NCBI Gene ID:92935] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
MARS2 gene full mutation analysis:Prid:Pt:Bld/Tiss:Nom:Sequencing
Long Common Name
MARS2 gene mutations found [Identifier] in Blood or Tissue by Sequencing Nominal
Short Name
MARS2 Full Mut Anl Bld/T Seq
Display Name
MARS2 gene full mutation analysis Sequencing Nom (Bld/Tiss)
Consumer Name Alpha Get Info
MARS2 gene variant analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    MARS2 gene full mutation analysis
    LP183581-0
    • Analyte
      MARS2 gene full mutation analysis
      LP183581-0
      • Component Numerator
        MARS2 gene full mutation analysis
        LP183581-0
        • Component Numerator Core
          MARS2 gene
          LP183582-8
        • Component Numerator Core Suffix
          full mutation analysis
          LP150044-8
      • 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
    Sequencing
    LP150045-5

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.48
Last Updated
Version 2.67 (MAJ)
Change Reason
Release 2.67: SYSTEM: Updated System from "Bld/Tiss/Sal" to "Bld/Tiss" since this System in LOINC encompasses all specimens used for germline nucleic acid testing, including blood, tissue and cells contained in swabs as well as fluids such as saliva.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen MARS2 kompletní mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Sekvenace
el-GRGreek (Greece)Γονίδιο MARS2 πλήρης ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Αλληλούχιση
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Αλληλούχιση Γονίδιο Γονίδιο MARS2 Ιστός πλήρης ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen MARS2 Análisis de mutación completa:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Secuenciación
es-MXSpanish (Mexico)Análisis de mutación completa del gen MARS2:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Secuenciación
fr-FRFrench (France)MARS2 gène analyse complète des mutations:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Séquençage
it-ITItalian (Italy)MARS2, gene Analisi di mutazione completa:Prid:Pt:Sangue/Tess:Nom:Sequenziamento
Synonyms: Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)MARS2-gen volledige mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:sequencing
Synonyms: MARS2 gen
pl-PLPolish (Poland)MARS2 gen pełna analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:sekwencjonowanie
Synonyms: Gen MARS2 wynik kategorialny
pt-BRPortuguese (Brazil)MARS2 gene análise de mutação completa:Ident:Pt:Sg/Tecido/Saliva:Nom:Sequenciamento
tr-TRTurkish (Turkey)MARS2 geni tam mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Sekanslama
Synonyms: Dizi tayini
zh-CNChinese (China)MARS2 基因 全面突变分析:存在与否或特征标识:时间点:全血/组织:名义型:序列测定
Synonyms: Methionyl tRNA synthetase 2;蛋氨酰 tRNA 合成酶 2;甲二磺酰 tRNA 合成酶 2;甲硫氨酰 tRNA 合成酶 2 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 存在;存在与否;特征标识;身份;身份标识 完整突变分析;综合突变分析 序列分析;测序 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=74834-3